LOCUS       NM_001749               1428 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens calpain small subunit 1 (CAPNS1), transcript variant
            1, mRNA.
ACCESSION   NM_001749
VERSION     NM_001749.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo 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   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 1428)
  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 1428)
  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 1428)
  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 1428)
  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 1428)
  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 1428)
  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 1428)
  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 1428)
  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 1428)
  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 AK289606.1, BQ891655.1 and
            BC000592.2.
            
            On May 17, 2019 this sequence version replaced NM_001749.3.
            
            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 (1) represents the longest
            transcript and encodes the longest isoform (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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC000592.2, AY007141.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000246533.8/ ENSP00000246533.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-941               AK289606.1         80-1020
            942-1103            BQ891655.1         543-704
            1104-1428           BC000592.2         1062-1386
FEATURES             Location/Qualifiers
     source          1..1428
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..1428
                     /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..92
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            93..316
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /inference="alignment:Splign:2.1.0"
     CDS             108..914
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /EC_number="3.4.22.52"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_001740.1"
                     /db_xref="CCDS:CCDS12489.1"
                     /db_xref="GeneID:826"
                     /db_xref="HGNC:HGNC:1481"
                     /db_xref="MIM:114170"
                     /translation="MFLVNSFLKGGGGGGGGGGGLGGGLGNVLGGLISGAGGGGGGGG
                     GGGGGGGGGGGGTAMRILGGVISAISEAAAQYNPEPPPPRTHYSNIEANESEEVRQFR
                     RLFAQLAGDDMEVSATELMNILNKVVTRHPDLKTDGFGIDTCRSMVAVMDSDTTGKLG
                     FEEFKYLWNNIKRWQAIYKQFDTDRSGTICSSELPGAFEAAGFHLNEHLYNMIIRRYS
                     DESGNMDFDNFISCLVRLDAMFRAFKSLDKDGTGQIQVNIQEWLQLTMYS"
     exon            317..350
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            351..440
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            441..498
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            499..563
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            564..632
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            633..711
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            712..828
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            829..887
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /inference="alignment:Splign:2.1.0"
     exon            888..1428
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1400..1405
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /note="hexamer: AATAAA"
     polyA_site      1428
                     /gene="CAPNS1"
                     /gene_synonym="CALPAIN4; CANP; CANPS; CAPN4; CDPS; CSS1;
                     PPH6"
                     /note="major polyA site"
ORIGIN      
        1 gagtcaccgg ccccgccctc cggagccgga cgctgcggga ggcccgggag cggcagtgga
       61 accgactccc agaactccgg acgtgtgcgg cgcagtgagt cgcagccatg ttcctggtta
      121 actcgttctt gaagggcggc ggcggcggcg gcgggggagg cgggggcctg ggtgggggcc
      181 tgggaaatgt gcttggaggc ctgatcagcg gggccggggg cggcggcggc ggcggcggcg
      241 gcggcggcgg tggtggaggc ggcggtggcg gtggaacggc catgcgcatc ctaggcggag
      301 tcatcagcgc catcagcgag gcggctgcgc agtacaaccc ggagcccccg cccccacgca
      361 cacattactc caacattgag gccaacgaga gtgaggaggt ccggcagttc cggagactct
      421 ttgcccagct ggctggagat gacatggagg tcagcgccac agaactcatg aacattctca
      481 ataaggttgt gacacgacac cctgatctga agactgatgg ttttggcatt gacacatgtc
      541 gcagcatggt ggccgtgatg gatagcgaca ccacaggcaa gctgggcttt gaggaattca
      601 agtacttgtg gaacaacatc aaaaggtggc aggccatata caaacagttc gacactgacc
      661 gatcagggac catttgcagt agtgaactcc caggtgcctt tgaggcagca gggttccacc
      721 tgaatgagca tctctataac atgatcatcc gacgctactc agatgaaagt gggaacatgg
      781 attttgacaa cttcatcagc tgcttggtca ggctggacgc catgttccgt gccttcaaat
      841 ctcttgacaa agatggcact ggacaaatcc aggtgaacat ccaggagtgg ctgcagctga
      901 ctatgtattc ctgaactgga gccccagacc cgccccctca ctgccttgct ataggagtca
      961 cctggagcct cggtctctcc cagggccgat cctgtctgca gtcacatctt tgtggggcct
     1021 gctgacccac aagcttttgt tctctcagta cttgttaccc agcttctcaa catccagggc
     1081 ccaatttgcc ctgcctggag ttccccctgg ctctaggaca ctctaacaag ctctgtccac
     1141 gggtctcccc attcccacca ggccctgcac acacccactc cgtaacctct cccctgtacc
     1201 tgtgccaagc ctagcacttg tgatgcctcc atgccccgag ggccctctct cagttctggg
     1261 aggatgactc cagtccctgc acgccctggc acacccttca cggttgctac ccaggcggcc
     1321 aagctccaga ccgtgccaga cccaggtgcc ccagtgcctt tgtctatatt ctgctcccag
     1381 cctgccaggc ccaggaggaa ataaacatgc cccagttgct gatctcta
//
