LOCUS       NM_001231               1878 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens calsequestrin 1 (CASQ1), mRNA.
ACCESSION   NM_001231
VERSION     NM_001231.5
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 1878)
  AUTHORS   Wyckelsma,V.L., Venckunas,T., Houweling,P.J., Schlittler,M.,
            Lauschke,V.M., Tiong,C.F., Wood,H.D., Ivarsson,N., Paulauskas,H.,
            Eimantas,N., Andersson,D.C., North,K.N., Brazaitis,M. and
            Westerblad,H.
  TITLE     Loss of alpha-actinin-3 during human evolution provides superior
            cold resilience and muscle heat generation
  JOURNAL   Am J Hum Genet 108 (3), 446-457 (2021)
   PUBMED   33600773
REFERENCE   2  (bases 1 to 1878)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1878)
  AUTHORS   Semplicini,C., Bertolin,C., Bello,L., Pantic,B., Guidolin,F.,
            Vianello,S., Catapano,F., Colombo,I., Moggio,M., Gavassini,B.F.,
            Cenacchi,G., Papa,V., Previtero,M., Calore,C., Soraru,G.,
            Minervini,G., Tosatto,S.C.E., Stramare,R. and Pegoraro,E.
  TITLE     The clinical spectrum of CASQ1-related myopathy
  JOURNAL   Neurology 91 (17), e1629-e1641 (2018)
   PUBMED   30258016
  REMARK    GeneRIF: This study showed that twenty-two CASQ1-mutated patients
            (12 families) were identified, 21 sharing the previously described
            founder mutation (p.Asp244Gly) and 1 with the p.Gly103Asp mutation.
REFERENCE   4  (bases 1 to 1878)
  AUTHORS   Barone,V., Del Re,V., Gamberucci,A., Polverino,V., Galli,L.,
            Rossi,D., Costanzi,E., Toniolo,L., Berti,G., Malandrini,A.,
            Ricci,G., Siciliano,G., Vattemi,G., Tomelleri,G., Pierantozzi,E.,
            Spinozzi,S., Volpi,N., Fulceri,R., Battistutta,R., Reggiani,C. and
            Sorrentino,V.
  TITLE     Identification and characterization of three novel mutations in the
            CASQ1 gene in four patients with tubular aggregate myopathy
  JOURNAL   Hum Mutat 38 (12), 1761-1773 (2017)
   PUBMED   28895244
  REMARK    GeneRIF: These results widen the spectrum of skeletal muscle
            diseases associated with CASQ1 and indicate that these mutations
            affect properties critical for correct Ca(2+) handling in skeletal
            muscle fibers.
REFERENCE   5  (bases 1 to 1878)
  AUTHORS   D'Adamo,M.C., Sforna,L., Visentin,S., Grottesi,A., Servettini,L.,
            Guglielmi,L., Macchioni,L., Saredi,S., Curcio,M., De Nuccio,C.,
            Hasan,S., Corazzi,L., Franciolini,F., Mora,M., Catacuzzeno,L. and
            Pessia,M.
  TITLE     A Calsequestrin-1 Mutation Associated with a Skeletal Muscle
            Disease Alters Sarcoplasmic Ca2+ Release
  JOURNAL   PLoS One 11 (5), e0155516 (2016)
   PUBMED   27196359
  REMARK    GeneRIF: the p.D244G variant in CASQ1 is associated with a skeletal
            muscle disease and alters sarcoplasmic calcium release
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1878)
  AUTHORS   Lestienne,P., Bataille,N. and Lucas-Heron,B.
  TITLE     Role of the mitochondrial DNA and calmitine in myopathies
  JOURNAL   Biochim Biophys Acta 1271 (1), 159-163 (1995)
   PUBMED   7599203
  REMARK    Review article
REFERENCE   7  (bases 1 to 1878)
  AUTHORS   Lucas-Heron,B.
  TITLE     Muscular degeneration in Duchenne's dystrophy may be caused by a
            mitochondrial defect
  JOURNAL   Med Hypotheses 44 (4), 298-300 (1995)
   PUBMED   7666833
REFERENCE   8  (bases 1 to 1878)
  AUTHORS   Bataille,N., Schmitt,N., Aumercier-Maes,P., Ollivier,B.,
            Lucas-Heron,B. and Lestienne,P.
  TITLE     Molecular cloning of human calmitine, a mitochondrial calcium
            binding protein, reveals identity with calsequestrine
  JOURNAL   Biochem Biophys Res Commun 203 (3), 1477-1482 (1994)
   PUBMED   7945294
REFERENCE   9  (bases 1 to 1878)
  AUTHORS   Otsu,K., Fujii,J., Periasamy,M., Difilippantonio,M., Uppender,M.,
            Ward,D.C. and MacLennan,D.H.
  TITLE     Chromosome mapping of five human cardiac and skeletal muscle
            sarcoplasmic reticulum protein genes
  JOURNAL   Genomics 17 (2), 507-509 (1993)
   PUBMED   8406504
REFERENCE   10 (bases 1 to 1878)
  AUTHORS   Fujii,J., Willard,H.F. and MacLennan,D.H.
  TITLE     Characterization and localization to human chromosome 1 of human
            fast-twitch skeletal muscle calsequestrin gene
  JOURNAL   Somat Cell Mol Genet 16 (2), 185-189 (1990)
   PUBMED   2321095
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA766051.1, BC022289.1 and
            AA197256.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001231.4.
            
            Summary: This gene encodes the skeletal muscle specific member of
            the calsequestrin protein family. Calsequestrin functions as a
            luminal sarcoplasmic reticulum calcium sensor in both cardiac and
            skeletal muscle cells. This protein, also known as calmitine,
            functions as a calcium regulator in the mitochondria of skeletal
            muscle. This protein is absent in patients with Duchenne and Becker
            types of muscular dystrophy. [provided by RefSeq, Jun 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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC022289.1, S73775.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000368078.8/
                                                  ENSP00000357057.3
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-34                DA766051.1         81-114
            35-1871             BC022289.1         1-1837
            1872-1878           AA197256.1         36-42               c
FEATURES             Location/Qualifiers
     source          1..1878
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.2"
     gene            1..1878
                     /gene="CASQ1"
                     /gene_synonym="CASQ; CSQ1; PDIB1; VMCQA"
                     /note="calsequestrin 1"
                     /db_xref="GeneID:844"
                     /db_xref="HGNC:HGNC:1512"
                     /db_xref="MIM:114250"
     exon            1..456
                     /gene="CASQ1"
                     /gene_synonym="CASQ; CSQ1; PDIB1; VMCQA"
                     /inference="alignment:Splign:2.1.0"
     CDS             178..1368
                     /gene="CASQ1"
                     /gene_synonym="CASQ; CSQ1; PDIB1; VMCQA"
                     /note="calmitine; calsequestrin 1 (fast-twitch, skeletal
                     muscle)"
                     /codon_start=1
                     /product="calsequestrin-1 precursor"
                     /protein_id="NP_001222.3"
                     /db_xref="CCDS:CCDS1198.2"
                     /db_xref="GeneID:844"
                     /db_xref="HGNC:HGNC:1512"
                     /db_xref="MIM:114250"
                     /translation="MSATDRMGPRAVPGLRLALLLLLVLGTPKSGVQGQEGLDFPEYD
                     GVDRVINVNAKNYKNVFKKYEVLALLYHEPPEDDKASQRQFEMEELILELAAQVLEDK
                     GVGFGLVDSEKDAAVAKKLGLTEVDSMYVFKGDEVIEYDGEFSADTIVEFLLDVLEDP
                     VELIEGERELQAFENIEDEIKLIGYFKSKDSEHYKAFEDAAEEFHPYIPFFATFDSKV
                     AKKLTLKLNEIDFYEAFMEEPVTIPDKPNSEEEIVNFVEEHRRSTLRKLKPESMYETW
                     EDDMDGIHIVAFAEEADPDGFEFLETLKAVAQDNTENPDLSIIWIDPDDFPLLVPYWE
                     KTFDIDLSAPQIGVVNVTDADSVWMEMDDEEDLPSAEELEDWLEDVLEGEINTEDDDD
                     DDDD"
     exon            457..541
                     /gene="CASQ1"
                     /gene_synonym="CASQ; CSQ1; PDIB1; VMCQA"
                     /inference="alignment:Splign:2.1.0"
     exon            542..642
                     /gene="CASQ1"
                     /gene_synonym="CASQ; CSQ1; PDIB1; VMCQA"
                     /inference="alignment:Splign:2.1.0"
     exon            643..754
                     /gene="CASQ1"
                     /gene_synonym="CASQ; CSQ1; PDIB1; VMCQA"
                     /inference="alignment:Splign:2.1.0"
     exon            755..828
                     /gene="CASQ1"
                     /gene_synonym="CASQ; CSQ1; PDIB1; VMCQA"
                     /inference="alignment:Splign:2.1.0"
     exon            829..959
                     /gene="CASQ1"
                     /gene_synonym="CASQ; CSQ1; PDIB1; VMCQA"
                     /inference="alignment:Splign:2.1.0"
     exon            960..1005
                     /gene="CASQ1"
                     /gene_synonym="CASQ; CSQ1; PDIB1; VMCQA"
                     /inference="alignment:Splign:2.1.0"
     exon            1006..1060
                     /gene="CASQ1"
                     /gene_synonym="CASQ; CSQ1; PDIB1; VMCQA"
                     /inference="alignment:Splign:2.1.0"
     exon            1061..1161
                     /gene="CASQ1"
                     /gene_synonym="CASQ; CSQ1; PDIB1; VMCQA"
                     /inference="alignment:Splign:2.1.0"
     exon            1162..1236
                     /gene="CASQ1"
                     /gene_synonym="CASQ; CSQ1; PDIB1; VMCQA"
                     /inference="alignment:Splign:2.1.0"
     exon            1237..1878
                     /gene="CASQ1"
                     /gene_synonym="CASQ; CSQ1; PDIB1; VMCQA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1853..1858
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CASQ1"
                     /gene_synonym="CASQ; CSQ1; PDIB1; VMCQA"
                     /note="hexamer: AATAAA"
     polyA_site      1878
                     /gene="CASQ1"
                     /gene_synonym="CASQ; CSQ1; PDIB1; VMCQA"
                     /note="major polyA site"
ORIGIN      
        1 ggctctgtcg gcagtttctc caggacccag cagtgccctc tgtccactgc tctgggccat
       61 tccccaatcc cccctcccac ttgagcccct aactcagaat ctgggaccca ggggcccctc
      121 cctaccccag ctaacctctt ctggaccagg agagccaacc cagatcccac tacctccatg
      181 agtgctacag acaggatggg gcccagagct gtgccgggtc tgcggctggc actgctgttg
      241 ctgctggtgc tagggacacc caagtcaggg gtacaggggc aggaagggct ggacttccct
      301 gagtacgatg gtgtggaccg tgtgatcaat gtcaatgcaa agaactacaa gaatgtgttc
      361 aagaagtatg aggtgctggc actcctctac catgaacccc ccgaggatga caaggcctca
      421 caaagacaat ttgagatgga ggagctgatc ctggagttag cagcccaagt cctagaagac
      481 aagggtgttg gcttcgggct ggtagactct gagaaggatg cagctgtggc caagaaacta
      541 ggcctaactg aagtggacag catgtatgta ttcaagggag atgaagtcat tgagtacgat
      601 ggcgagtttt ctgctgacac catcgtggag tttctgcttg atgtcctaga ggaccctgtg
      661 gaattgattg aaggtgaacg agagctgcag gcgtttgaga atattgagga tgagatcaaa
      721 ctcattggct acttcaagag caaagactca gagcattaca aagccttcga ggatgcagct
      781 gaggagtttc atccctacat ccccttcttc gccaccttcg acagcaaggt ggcaaagaag
      841 ctgaccctga agctgaatga gattgatttc tacgaggcct tcatggaaga gcctgtgacc
      901 atcccagaca agcccaatag cgaagaggag attgtcaact tcgtggagga gcacaggaga
      961 tcaaccctga ggaaactgaa gccggagagt atgtatgaga cctgggagga tgatatggat
     1021 ggaatccaca ttgtggcctt cgcagaggaa gctgatcctg atggtttcga gttcttagag
     1081 actctcaagg ctgtggccca agataacact gaaaacccag atcttagcat catctggatt
     1141 gaccctgatg acttccccct gctggtccca tactgggaga agacgtttga catcgacttg
     1201 tcagccccac aaataggagt cgtcaatgtt actgatgcgg atagcgtatg gatggaaatg
     1261 gacgatgagg aggacctgcc ttctgctgag gagctggagg actggctgga ggatgtcctg
     1321 gagggcgaga tcaacacaga ggacgatgac gatgatgatg atgactagtt gctatggcaa
     1381 ccatctttca gccccactgg tcttttcatg ctctctcctg ccttcccttg tccttccctg
     1441 agttcctcca gggagactag gttattctct gccatagagc taactggggt ctatatgctg
     1501 ggtgctgaga cactgatccc cctcatttga tgagcaaatg agctactttt ccctagacac
     1561 caggccagct ctctcttatc tgacttctgt ttcttatccc ataacttact tgtatctatt
     1621 atgtgtctct tccatcactc tccatactct ttcttgtgat tctcctctag ccatatatat
     1681 gggccccatc tctgttctgt tccctccatc tatgcacagc tttcccccac tctctctaat
     1741 cctgtatctt tctgactgtc ctgtccttgg ccagaaggaa gggagaatac tgtgtttggg
     1801 actgtatctc agcaatcact tgttaatgta tttgggtcaa atgagaggcc tcaataaaga
     1861 catctggggc agcatgaa
//
