LOCUS       NM_001302633            1687 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens calpain small subunit 1 (CAPNS1), transcript variant
            4, mRNA.
ACCESSION   NM_001302633 XM_005259297
VERSION     NM_001302633.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1687)
  AUTHORS   Huang,X., Zhang,K.J., Jiang,J.J., Jiang,S.Y., Lin,J.B. and Lou,Y.J.
  TITLE     Identification of Crucial Genes and Key Functions in Type 2
            Diabetic Hearts by Bioinformatic Analysis
  JOURNAL   Front Endocrinol (Lausanne) 13, 801260 (2022)
   PUBMED   35242109
  REMARK    GeneRIF: Identification of Crucial Genes and Key Functions in Type
            2 Diabetic Hearts by Bioinformatic Analysis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1687)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 1687)
  AUTHORS   Lin,X., Chen,Y., Ye,X. and Xia,X.
  TITLE     Circular RNA ABCB10 promotes cell proliferation and invasion, but
            inhibits apoptosis via regulating the microRNA-1271-mediated
            Capn4/Wnt/beta-catenin signaling pathway in epithelial ovarian
            cancer
  JOURNAL   Mol Med Rep 23 (5) (2021)
   PUBMED   33760208
  REMARK    GeneRIF: Circular RNA ABCB10 promotes cell proliferation and
            invasion, but inhibits apoptosis via regulating the
            microRNA1271mediated Capn4/Wnt/betacatenin signaling pathway in
            epithelial ovarian cancer.
REFERENCE   4  (bases 1 to 1687)
  AUTHORS   Zhuang,Q., Fan,M., Shen,J., Chen,Z., Xue,D., Lu,H., Xu,R., He,X.
            and Hou,J.
  TITLE     Overexpression of Capns1 Predicts Poor Prognosis and Correlates
            with Tumor Progression in Renal Cell Carcinoma
  JOURNAL   Urol Int 105 (7-8), 697-704 (2021)
   PUBMED   33887737
  REMARK    GeneRIF: Overexpression of Capns1 Predicts Poor Prognosis and
            Correlates with Tumor Progression in Renal Cell Carcinoma.
REFERENCE   5  (bases 1 to 1687)
  AUTHORS   Zhao,C., Yuan,G., Jiang,Y., Xu,J., Ye,L., Zhan,W. and Wang,J.
  TITLE     Capn4 contributes to tumor invasion and metastasis in gastric
            cancer via activation of the Wnt/beta-catenin/MMP9 signalling
            pathways
  JOURNAL   Exp Cell Res 395 (2), 112220 (2020)
   PUBMED   32777225
  REMARK    GeneRIF: Capn4 contributes to tumor invasion and metastasis in
            gastric cancer via activation of the Wnt/beta-catenin/MMP9
            signalling pathways.
REFERENCE   6  (bases 1 to 1687)
  AUTHORS   Suzuki,K., Sorimachi,H., Yoshizawa,T., Kinbara,K. and Ishiura,S.
  TITLE     Calpain: novel family members, activation, and physiologic function
  JOURNAL   Biol Chem Hoppe Seyler 376 (9), 523-529 (1995)
   PUBMED   8561910
  REMARK    Review article
REFERENCE   7  (bases 1 to 1687)
  AUTHORS   Banik,N.L., DeVries,G.H., Neuberger,T., Russell,T.,
            Chakrabarti,A.K. and Hogan,E.L.
  TITLE     Calcium-activated neutral proteinase (CANP; calpain) activity in
            Schwann cells: immunofluorescence localization and compartmentation
            of mu- and mCANP
  JOURNAL   J Neurosci Res 29 (3), 346-354 (1991)
   PUBMED   1656060
REFERENCE   8  (bases 1 to 1687)
  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   9  (bases 1 to 1687)
  AUTHORS   Miyake,S., Emori,Y. and Suzuki,K.
  TITLE     Gene organization of the small subunit of human calcium-activated
            neutral protease
  JOURNAL   Nucleic Acids Res 14 (22), 8805-8817 (1986)
   PUBMED   3024120
REFERENCE   10 (bases 1 to 1687)
  AUTHORS   Ohno,S., Emori,Y. and Suzuki,K.
  TITLE     Nucleotide sequence of a cDNA coding for the small subunit of human
            calcium-dependent protease
  JOURNAL   Nucleic Acids Res 14 (13), 5559 (1986)
   PUBMED   3016651
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AD001527.1, HY003903.1,
            CN349928.1, AK289606.1, BQ891655.1 and BC000592.2.
            
            On Jun 2, 2019 this sequence version replaced NM_001302633.1.
            
            Summary: This gene is a member of the calpain small subunit family.
            Calpains are calcium-dependent cysteine proteinases that are widely
            distributed in mammalian cells. Calpains operate as heterodimers,
            comprising a specific large catalytic subunit (calpain 1 subunit in
            Calpain I, and calpain 2 subunit in Calpain II), and a common small
            regulatory subunit encoded by this gene. This encoded protein is
            essential for the stability and function of both calpain
            heterodimers, whose proteolytic activities influence various
            cellular functions including apoptosis, proliferation, migration,
            adhesion, and autophagy. Calpains have been implicated in
            neurodegenerative processes, such as myotonic dystrophy. A
            pseudogene of this gene has been defined on chromosome 1.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Oct 2014].
            
            Transcript Variant: This variant (4) lacks two 5' exons and uses an
            alternate 5' terminal exon which results in the use of a downstream
            in-frame start codon, compared to variant 1. It encodes isoform 2
            which has a shorter 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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.288310.1,
                                           SRR5189658.63397.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2147975
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-430               AD001527.1         30984-31413
            431-481             HY003903.1         4-54
            482-1178            CN349928.1         1-697
            1179-1200           AK289606.1         999-1020
            1201-1362           BQ891655.1         543-704
            1363-1687           BC000592.2         1062-1386
FEATURES             Location/Qualifiers
     source          1..1687
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..1687
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /note="calpain small subunit 1"
                     /db_xref="GeneID:826"
                     /db_xref="HGNC:HGNC:1481"
                     /db_xref="MIM:114170"
     exon            1..575
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            576..609
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            610..699
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            700..757
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /inference="alignment:Splign:2.1.0"
     CDS             703..1173
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /EC_number="3.4.22.52"
                     /note="isoform 2 is encoded by transcript variant 4;
                     calpain, small polypeptide; calpain 4, small subunit
                     (30K); calcium-dependent protease, small subunit; CANP
                     small subunit; calpain regulatory subunit;
                     calcium-dependent protease small subunit 1;
                     calcium-activated neutral proteinase small subunit;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="calpain small subunit 1 isoform 2"
                     /protein_id="NP_001289562.1"
                     /db_xref="GeneID:826"
                     /db_xref="HGNC:HGNC:1481"
                     /db_xref="MIM:114170"
                     /translation="MEVSATELMNILNKVVTRHPDLKTDGFGIDTCRSMVAVMDSDTT
                     GKLGFEEFKYLWNNIKRWQAIYKQFDTDRSGTICSSELPGAFEAAGFHLNEHLYNMII
                     RRYSDESGNMDFDNFISCLVRLDAMFRAFKSLDKDGTGQIQVNIQEWLQLTMYS"
     exon            758..822
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            823..891
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            892..970
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            971..1087
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            1088..1146
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            1147..1687
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1659..1664
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /note="hexamer: AATAAA"
     polyA_site      1687
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /note="major polyA site"
ORIGIN      
        1 cccccagcag tgagtcgcag ccatgttcct ggttaactcg ttcttgaagg gcggcggcgg
       61 cggcggcggg ggaggcgggg gcctgggtgg gggcctggga aatgtgcttg gaggcctgat
      121 cagcggggcc gggggcggcg gcggcggcgg cggcggcggc ggcggtggtg gaggcggcgg
      181 tggcggtgga acggccatgc gcatcctagg cggagtcatc agcgccatca ggtaaggcgg
      241 agactatcag aggggcgggg cctgggaatg ggaggagcct cagtgaggcg tggtctggga
      301 ggggcgtggt ctaaaaatag aataggatta acctggaggc taacctgggt acatgaatta
      361 ggccggggag gcctggtttg agagttctgc tgtaaggggg tggaccccag tgaggcggat
      421 atcagtcatt gggggcggtg cttgatatgg gagtagtctg attgtgtggg accaggacaa
      481 tgtggtcctg aggggactga tgtggagttt tggcgggtgg ggcttatggg tctgggctca
      541 gcctgcattg gctaacctgg agatgaacgt taaagcgagg cggctgcgca gtacaacccg
      601 gagcccccgc ccccacgcac acattactcc aacattgagg ccaacgagag tgaggaggtc
      661 cggcagttcc ggagactctt tgcccagctg gctggagatg acatggaggt cagcgccaca
      721 gaactcatga acattctcaa taaggttgtg acacgacacc ctgatctgaa gactgatggt
      781 tttggcattg acacatgtcg cagcatggtg gccgtgatgg atagcgacac cacaggcaag
      841 ctgggctttg aggaattcaa gtacttgtgg aacaacatca aaaggtggca ggccatatac
      901 aaacagttcg acactgaccg atcagggacc atttgcagta gtgaactccc aggtgccttt
      961 gaggcagcag ggttccacct gaatgagcat ctctataaca tgatcatccg acgctactca
     1021 gatgaaagtg ggaacatgga ttttgacaac ttcatcagct gcttggtcag gctggacgcc
     1081 atgttccgtg ccttcaaatc tcttgacaaa gatggcactg gacaaatcca ggtgaacatc
     1141 caggagtggc tgcagctgac tatgtattcc tgaactggag ccccagaccc gccccctcac
     1201 tgccttgcta taggagtcac ctggagcctc ggtctctccc agggccgatc ctgtctgcag
     1261 tcacatcttt gtggggcctg ctgacccaca agcttttgtt ctctcagtac ttgttaccca
     1321 gcttctcaac atccagggcc caatttgccc tgcctggagt tccccctggc tctaggacac
     1381 tctaacaagc tctgtccacg ggtctcccca ttcccaccag gccctgcaca cacccactcc
     1441 gtaacctctc ccctgtacct gtgccaagcc tagcacttgt gatgcctcca tgccccgagg
     1501 gccctctctc agttctggga ggatgactcc agtccctgca cgccctggca cacccttcac
     1561 ggttgctacc caggcggcca agctccagac cgtgccagac ccaggtgccc cagtgccttt
     1621 gtctatattc tgctcccagc ctgccaggcc caggaggaaa taaacatgcc ccagttgctg
     1681 atctcta
//
