LOCUS       NM_145064               1645 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens SH3 and cysteine rich domain 3 (STAC3), transcript
            variant 1, mRNA.
ACCESSION   NM_145064
VERSION     NM_145064.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo 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   Pintacuda,G., Hsu,Y.H., Tsafou,K., Li,K.W., Martin,J.M.,
            Riseman,J., Biagini,J.C., Ching,J.K.T., Mena,D.,
            Gonzalez-Lozano,M.A., Egri,S.B., Jaffe,J., Smit,A.B., Fornelos,N.,
            Eggan,K.C. and Lage,K.
  TITLE     Protein interaction studies in human induced neurons indicate
            convergent biology underlying autism spectrum disorders
  JOURNAL   Cell Genom 3 (3), 100250 (2023)
   PUBMED   36950384
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1645)
  AUTHORS   Gromand,M., Gueguen,P., Perville,A., Ferroul,F., Morel,G.,
            Harouna,A., Doray,B., Urtizberea,J.A., Alessandri,J.L. and Robin,S.
  TITLE     STAC3 related congenital myopathy: A case series of seven Comorian
            patients
  JOURNAL   Eur J Med Genet 65 (10), 104598 (2022)
   PUBMED   36030003
  REMARK    GeneRIF: STAC3 related congenital myopathy: A case series of seven
            Comorian patients.
REFERENCE   3  (bases 1 to 1645)
  AUTHORS   Bi,X., Liu,J., Xu,S., Wang,Y. and Wu,X.
  TITLE     Testicular STAC3 regulates Leydig cell steroidogenesis through
            potentiating mitochondrial membrane potential and StAR processing
  JOURNAL   Cell Tissue Res 384 (1), 195-209 (2021)
   PUBMED   33409656
  REMARK    GeneRIF: Testicular STAC3 regulates Leydig cell steroidogenesis
            through potentiating mitochondrial membrane potential and StAR
            processing.
REFERENCE   4  (bases 1 to 1645)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  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 1645)
  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 1645)
  AUTHORS   Nelson,B.R., Wu,F., Liu,Y., Anderson,D.M., McAnally,J., Lin,W.,
            Cannon,S.C., Bassel-Duby,R. and Olson,E.N.
  TITLE     Skeletal muscle-specific T-tubule protein STAC3 mediates
            voltage-induced Ca2+ release and contractility
  JOURNAL   Proc Natl Acad Sci U S A 110 (29), 11881-11886 (2013)
   PUBMED   23818578
REFERENCE   7  (bases 1 to 1645)
  AUTHORS   Horstick,E.J., Linsley,J.W., Dowling,J.J., Hauser,M.A.,
            McDonald,K.K., Ashley-Koch,A., Saint-Amant,L., Satish,A., Cui,W.W.,
            Zhou,W., Sprague,S.M., Stamm,D.S., Powell,C.M., Speer,M.C.,
            Franzini-Armstrong,C., Hirata,H. and Kuwada,J.Y.
  TITLE     Stac3 is a component of the excitation-contraction coupling
            machinery and mutated in Native American myopathy
  JOURNAL   Nat Commun 4, 1952 (2013)
   PUBMED   23736855
  REMARK    GeneRIF: A mutation in human STAC3 is the genetic basis of the
            debilitating Native American myopathy.
REFERENCE   8  (bases 1 to 1645)
  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,M.E., Hill,D.E.,
            Roth,F.P., Braun,P. and Vidal,M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   9  (bases 1 to 1645)
  AUTHORS   Webb,B.D., Manoli,I. and Jabs,E.W.
  TITLE     STAC3 Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31219695
REFERENCE   10 (bases 1 to 1645)
  AUTHORS   Rosenberg,H., Sambuughin,N., Riazi,S. and Dirksen,R.
  TITLE     Malignant Hyperthermia Susceptibility
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301325
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA896836.1, AK057013.1 and
            BU738507.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_145064.2.
            
            Summary: The protein encoded by this gene is a component of the
            excitation-contraction coupling machinery of muscles. This protein
            is a member of the Stac gene family and contains an N-terminal
            cysteine-rich domain and two SH3 domains. Mutations in this gene
            are a cause of Native American myopathy. [provided by RefSeq, Nov
            2013].
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK057013.1, ERR279851.2766.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000332782.7/ ENSP00000329200.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 DA896836.1         7-7
            2-1644              AK057013.1         1-1643
            1645-1645           BU738507.1         18-18               c
FEATURES             Location/Qualifiers
     source          1..1645
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     gene            1..1645
                     /gene="STAC3"
                     /gene_synonym="CMYO13; CMYP13; MYPBB; NAM"
                     /note="SH3 and cysteine rich domain 3"
                     /db_xref="GeneID:246329"
                     /db_xref="HGNC:HGNC:28423"
                     /db_xref="MIM:615521"
     exon            1..195
                     /gene="STAC3"
                     /gene_synonym="CMYO13; CMYP13; MYPBB; NAM"
                     /inference="alignment:Splign:2.1.0"
     exon            196..262
                     /gene="STAC3"
                     /gene_synonym="CMYO13; CMYP13; MYPBB; NAM"
                     /inference="alignment:Splign:2.1.0"
     CDS             197..1291
                     /gene="STAC3"
                     /gene_synonym="CMYO13; CMYP13; MYPBB; NAM"
                     /note="isoform a is encoded by transcript variant 1; SH3
                     and cysteine-rich domain-containing protein 3"
                     /codon_start=1
                     /product="SH3 and cysteine-rich domain-containing protein
                     3 isoform a"
                     /protein_id="NP_659501.1"
                     /db_xref="CCDS:CCDS8936.1"
                     /db_xref="GeneID:246329"
                     /db_xref="HGNC:HGNC:28423"
                     /db_xref="MIM:615521"
                     /translation="MTEKEVLESPKPSFPAETRQSGLQRLKQLLRKGSTGTKEMELPP
                     EPQANGEAVGAGGGPIYYIYEEEEEEEEEEEEPPPEPPKLVNDKPHKFKDHFFKKPKF
                     CDVCARMIVLNNKFGLRCKNCKTNIHEHCQSYVEMQRCFGKIPPGFHRAYSSPLYSNQ
                     QYACVKDLSAANRNDPVFETLRTGVIMANKERKKGQADKKNPVAAMMEEEPESARPEE
                     GKPQDGNPEGDKKAEKKTPDDKHKQPGFQQSHYFVALYRFKALEKDDLDFPPGEKITV
                     IDDSNEEWWRGKIGEKVGFFPPNFIIRVRAGERVHRVTRSFVGNREIGQITLKKDQIV
                     VQKGDEAGGYVKVYTGRKVGLFPTDFLEEI"
     exon            263..530
                     /gene="STAC3"
                     /gene_synonym="CMYO13; CMYP13; MYPBB; NAM"
                     /inference="alignment:Splign:2.1.0"
     exon            531..628
                     /gene="STAC3"
                     /gene_synonym="CMYO13; CMYP13; MYPBB; NAM"
                     /inference="alignment:Splign:2.1.0"
     exon            629..701
                     /gene="STAC3"
                     /gene_synonym="CMYO13; CMYP13; MYPBB; NAM"
                     /inference="alignment:Splign:2.1.0"
     exon            702..799
                     /gene="STAC3"
                     /gene_synonym="CMYO13; CMYP13; MYPBB; NAM"
                     /inference="alignment:Splign:2.1.0"
     exon            800..866
                     /gene="STAC3"
                     /gene_synonym="CMYO13; CMYP13; MYPBB; NAM"
                     /inference="alignment:Splign:2.1.0"
     exon            867..916
                     /gene="STAC3"
                     /gene_synonym="CMYO13; CMYP13; MYPBB; NAM"
                     /inference="alignment:Splign:2.1.0"
     exon            917..1002
                     /gene="STAC3"
                     /gene_synonym="CMYO13; CMYP13; MYPBB; NAM"
                     /inference="alignment:Splign:2.1.0"
     exon            1003..1054
                     /gene="STAC3"
                     /gene_synonym="CMYO13; CMYP13; MYPBB; NAM"
                     /inference="alignment:Splign:2.1.0"
     exon            1055..1192
                     /gene="STAC3"
                     /gene_synonym="CMYO13; CMYP13; MYPBB; NAM"
                     /inference="alignment:Splign:2.1.0"
     exon            1193..1645
                     /gene="STAC3"
                     /gene_synonym="CMYO13; CMYP13; MYPBB; NAM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1624..1629
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STAC3"
                     /gene_synonym="CMYO13; CMYP13; MYPBB; NAM"
                     /note="hexamer: ATTAAA"
     polyA_site      1645
                     /gene="STAC3"
                     /gene_synonym="CMYO13; CMYP13; MYPBB; NAM"
                     /note="major polyA site"
ORIGIN      
        1 catttcagcc ctgacaccaa ggcaggaggc taggaggtct acaaatagcg actgggtagc
       61 tggtgtgaac acagggggta ctgggggggc ttagccccca aggaagagga ccagtttttc
      121 cccagcacca ccatcaaggc ctcgaggctc ccagctccct ctacagcctg tggactgact
      181 tagggaatcc cgaacgatga cagaaaagga ggtgctggag tcccctaagc cctccttccc
      241 agcagagact cggcaaagtg ggctacagcg gctaaagcag ttactcagga agggttctac
      301 agggacaaag gagatggaac ttcccccaga gccccaggcc aatggggagg cagtgggagc
      361 tgggggtggg cccatctact acatctatga ggaagaggaa gaggaagaag aggaggagga
      421 ggagccaccc ccagaacctc ctaagctggt caacgataag ccccacaaat tcaaagatca
      481 cttcttcaag aagccaaagt tctgtgatgt ctgtgcccgg atgattgttc tcaacaacaa
      541 gtttgggctt cgctgtaaga actgcaaaac caacatccat gaacactgtc agtcctatgt
      601 ggaaatgcag agatgcttcg gcaagatccc acctggtttc catcgggcct atagttcccc
      661 actctacagc aaccagcagt acgcttgtgt caaagatctc tctgctgcca atcgcaatga
      721 tcctgtgttt gaaaccctgc gcactggggt gatcatggca aacaaggaac ggaagaaggg
      781 acaggcagat aagaaaaatc ctgtagcagc catgatggag gaggagccag agtcggccag
      841 accagaggaa ggcaaacccc aggatggaaa ccctgaaggg gataagaagg ctgagaagaa
      901 gacacctgat gacaagcaca agcagcctgg cttccagcag tctcattact ttgtggctct
      961 ctatcggttc aaagccctgg agaaggacga tctggatttc ccgccaggag agaagatcac
     1021 agtcattgat gactccaatg aagaatggtg gcgggggaaa atcggggaga aggtcggatt
     1081 tttccctcca aacttcatca ttcgggtccg ggctggagaa cgtgtgcacc gcgtgacgag
     1141 atccttcgtg gggaaccgcg agatagggca gatcactctc aagaaggacc agatcgtggt
     1201 gcagaaagga gacgaagcgg gcggctacgt caaggtctac accggccgca aggtggggct
     1261 gtttcccacc gactttctag aggaaattta ggcgtgcggg cgcctgcaag cgggagacac
     1321 ccacacccca ttctgggcgg gcccagtgga gtttggggag gggggcgaaa gcaacgggac
     1381 tgctgggaga ggaggggtag gaaggcccgc ctgagcgcga cggggcttcc gggaagggac
     1441 tggttctcgc ccccttcccc agcctggggc ctcggatacc tgctgcccag agcagcccgg
     1501 acccgaaacc tttcaggccc cgcttgcaag agctggaaaa aaacgcgtat ctactaggag
     1561 gagccaggga ctggggcggg gggcgggggc gagggagggc gaactgtcga atgttgcgaa
     1621 tttattaaac ttttgacaaa actta
//
