LOCUS       NM_005186               2952 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens calpain 1 (CAPN1), transcript variant 2, mRNA.
ACCESSION   NM_005186
VERSION     NM_005186.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2952)
  AUTHORS   Liu,Y., Tang,B., Wang,H. and Lu,M.
  TITLE     Otud6b induces pulmonary arterial hypertension by mediating the
            Calpain-1/HIF-1alpha signaling pathway
  JOURNAL   Cell Mol Life Sci 81 (1), 258 (2024)
   PUBMED   38878112
  REMARK    GeneRIF: Otud6b induces pulmonary arterial hypertension by
            mediating the Calpain-1/HIF-1alpha signaling pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2952)
  AUTHORS   Liu,G., Lv,Y., Wang,Y., Xu,Z., Chen,L., Chen,S., Xie,W., Feng,Y.,
            Liu,J., Bai,Y., He,Y., Li,X. and Wu,Q.
  TITLE     Remote ischemic preconditioning reduces mitochondrial apoptosis
            mediated by calpain 1 activation in myocardial ischemia-reperfusion
            injury through calcium channel subunit Cacna2d3
  JOURNAL   Free Radic Biol Med 212, 80-93 (2024)
   PUBMED   38151212
  REMARK    GeneRIF: Remote ischemic preconditioning reduces mitochondrial
            apoptosis mediated by calpain 1 activation in myocardial
            ischemia-reperfusion injury through calcium channel subunit
            Cacna2d3.
REFERENCE   3  (bases 1 to 2952)
  AUTHORS   Zhu,Z., Hou,W., Cao,Y., Zheng,H., Tian,W. and Cao,L.
  TITLE     Spastic paraplegia type 76 due to novel CAPN1 mutations: three case
            reports with literature review
  JOURNAL   Neurogenetics 24 (4), 243-250 (2023)
   PUBMED   37468791
  REMARK    GeneRIF: Spastic paraplegia type 76 due to novel CAPN1 mutations:
            three case reports with literature review.
            Review article
REFERENCE   4  (bases 1 to 2952)
  AUTHORS   Berna-Erro,A., Ramesh,G., Delgado,E., Corbacho,A.J.,
            Ferrer-Marin,F., Teruel,R., Granados,M.P., Rosado,J.A. and
            Redondo,P.C.
  TITLE     CAPN1 (Calpain1)-Dependent Cleavage of STIM1 (Stromal Interaction
            Molecule 1) Results in an Enhanced SOCE (Store-Operated Calcium
            Entry) in Human Neonatal Platelets
  JOURNAL   Arterioscler Thromb Vasc Biol 43 (5), e151-e170 (2023)
   PUBMED   36924231
  REMARK    GeneRIF: CAPN1 (Calpain1)-Dependent Cleavage of STIM1 (Stromal
            Interaction Molecule 1) Results in an Enhanced SOCE (Store-Operated
            Calcium Entry) in Human Neonatal Platelets.
REFERENCE   5  (bases 1 to 2952)
  AUTHORS   Chevalier,B., Baatallah,N., Najm,M., Castanier,S., Jung,V.,
            Pranke,I., Golec,A., Stoven,V., Marullo,S., Antigny,F.,
            Guerrera,I.C., 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   6  (bases 1 to 2952)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
REFERENCE   7  (bases 1 to 2952)
  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 2952)
  AUTHORS   Sorimachi,H., Ohmi,S., Emori,Y., Kawasaki,H., Saido,T.C., Ohno,S.,
            Minami,Y. and Suzuki,K.
  TITLE     A novel member of the calcium-dependent cysteine protease family
  JOURNAL   Biol Chem Hoppe Seyler 371 Suppl, 171-176 (1990)
   PUBMED   2400579
REFERENCE   9  (bases 1 to 2952)
  AUTHORS   Uemori,T., Shimojo,T., Asada,K., Asano,T., Kimizuka,F., Kato,I.,
            Maki,M., Hatanaka,M., Murachi,T., Hanzawa,H. et al.
  TITLE     Characterization of a functional domain of human calpastatin
  JOURNAL   Biochem Biophys Res Commun 166 (3), 1485-1493 (1990)
   PUBMED   2407243
REFERENCE   10 (bases 1 to 2952)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC008751.2 and X04366.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_005186.3.
            
            Summary: The calpains, calcium-activated neutral proteases, are
            nonlysosomal, intracellular cysteine proteases. The mammalian
            calpains include ubiquitous, stomach-specific, and muscle-specific
            proteins. The ubiquitous enzymes consist of heterodimers with
            distinct large, catalytic subunits associated with a common small,
            regulatory subunit. This gene encodes the large subunit of the
            ubiquitous enzyme, calpain 1. Several transcript variants encoding
            two different isoforms have been found for this gene. [provided by
            RefSeq, Nov 2010].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. 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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.53159.1, BC008751.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000279247.11/ ENSP00000279247.7
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1730              BC008751.2         47-1776
            1731-1731           X04366.1           1787-1787
            1732-2952           BC008751.2         1778-2998
FEATURES             Location/Qualifiers
     source          1..2952
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..2952
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /note="calpain 1"
                     /db_xref="GeneID:823"
                     /db_xref="HGNC:HGNC:1476"
                     /db_xref="MIM:114220"
     exon            1..86
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /inference="alignment:Splign:2.1.0"
     exon            87..354
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /inference="alignment:Splign:2.1.0"
     CDS             88..2232
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /EC_number="3.4.22.52"
                     /note="calpain, large polypeptide L1; calpain 1, (mu/I)
                     large subunit; cell proliferation-inducing protein 30;
                     CANP 1; calpain mu-type; micromolar-calpain; calpain-1
                     large subunit; calcium-activated neutral proteinase 1;
                     cell proliferation-inducing gene 30 protein"
                     /codon_start=1
                     /product="calpain-1 catalytic subunit"
                     /protein_id="NP_005177.2"
                     /db_xref="CCDS:CCDS44644.1"
                     /db_xref="GeneID:823"
                     /db_xref="HGNC:HGNC:1476"
                     /db_xref="MIM:114220"
                     /translation="MSEEIITPVYCTGVSAQVQKQRARELGLGRHENAIKYLGQDYEQ
                     LRVRCLQSGTLFRDEAFPPVPQSLGYKDLGPNSSKTYGIKWKRPTELLSNPQFIVDGA
                     TRTDICQGALGDCWLLAAIASLTLNDTLLHRVVPHGQSFQNGYAGIFHFQLWQFGEWV
                     DVVVDDLLPIKDGKLVFVHSAEGNEFWSALLEKAYAKVNGSYEALSGGSTSEGFEDFT
                     GGVTEWYELRKAPSDLYQIILKALERGSLLGCSIDISSVLDMEAITFKKLVKGHAYSV
                     TGAKQVNYRGQVVSLIRMRNPWGEVEWTGAWSDSSSEWNNVDPYERDQLRVKMEDGEF
                     WMSFRDFMREFTRLEICNLTPDALKSRTIRKWNTTLYEGTWRRGSTAGGCRNYPATFW
                     VNPQFKIRLDETDDPDDYGDRESGCSFVLALMQKHRRRERRFGRDMETIGFAVYEVPP
                     ELVGQPAVHLKRDFFLANASRARSEQFINLREVSTRFRLPPGEYVVVPSTFEPNKEGD
                     FVLRFFSEKSAGTVELDDQIQANLPDEQVLSEEEIDENFKALFRQLAGEDMEISVKEL
                     RTILNRIISKHKDLRTKGFSLESCRSMVNLMDRDGNGKLGLVEFNILWNRIRNYLSIF
                     RKFDLDKSGSMSAYEMRMAIESAGFKLNKKLYELIITRYSEPDLAVDFDNFVCCLVRL
                     ETMFRFFKTLDTDLDGVVTFDLFKWLQLTMFA"
     exon            355..424
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /inference="alignment:Splign:2.1.0"
     exon            425..543
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /inference="alignment:Splign:2.1.0"
     exon            544..677
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /inference="alignment:Splign:2.1.0"
     exon            678..846
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /inference="alignment:Splign:2.1.0"
     exon            847..930
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /inference="alignment:Splign:2.1.0"
     exon            931..1016
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /inference="alignment:Splign:2.1.0"
     exon            1017..1091
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /inference="alignment:Splign:2.1.0"
     exon            1092..1252
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /inference="alignment:Splign:2.1.0"
     exon            1253..1428
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /inference="alignment:Splign:2.1.0"
     exon            1429..1440
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /inference="alignment:Splign:2.1.0"
     exon            1441..1652
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /inference="alignment:Splign:2.1.0"
     exon            1653..1692
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /inference="alignment:Splign:2.1.0"
     exon            1693..1758
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /inference="alignment:Splign:2.1.0"
     exon            1759..1816
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /inference="alignment:Splign:2.1.0"
     exon            1817..1881
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /inference="alignment:Splign:2.1.0"
     exon            1882..1950
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /inference="alignment:Splign:2.1.0"
     exon            1951..2029
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /inference="alignment:Splign:2.1.0"
     exon            2030..2146
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /inference="alignment:Splign:2.1.0"
     exon            2147..2205
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /inference="alignment:Splign:2.1.0"
     exon            2206..2952
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2926..2931
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /note="hexamer: AATAAA"
     polyA_site      2952
                     /gene="CAPN1"
                     /gene_synonym="CANP; CANP1; CANPL1; muCANP; muCL; SPG76"
                     /note="major polyA site"
ORIGIN      
        1 gctcttcctg gttgggccct gccctgagct gccaccggga agccagcctc agggactgca
       61 gcgaccccca aacacccctc ccccaggatg tcggaggaga tcatcacgcc ggtgtactgc
      121 actggggtgt cagcccaagt gcagaagcag cgggccaggg agctgggcct gggccgccat
      181 gagaatgcca tcaagtacct gggccaggat tatgagcagc tgcgggtgcg atgcctgcag
      241 agtgggaccc tcttccgtga tgaggccttc cccccggtac cccagagcct gggttacaag
      301 gacctgggtc ccaattcctc caagacctat ggcatcaagt ggaagcgtcc cacggaactg
      361 ctgtcaaacc cccagttcat tgtggatgga gctacccgca cagacatctg ccagggagca
      421 ctgggggact gctggctctt ggcggccatc gcctccctca ctctcaacga caccctcctg
      481 caccgagtgg ttccgcacgg ccagagcttc cagaatggct atgccggcat cttccatttc
      541 cagctgtggc aatttgggga gtgggtggac gtggtcgtgg atgacctgct gcccatcaag
      601 gacgggaagc tagtgttcgt gcactctgcc gaaggcaacg agttctggag cgccctgctt
      661 gagaaggcct atgccaaggt aaatggcagc tacgaggccc tgtcaggggg cagcacctca
      721 gagggctttg aggacttcac aggcggggtt accgagtggt acgagttgcg caaggctccc
      781 agtgacctct accagatcat cctcaaggcg ctggagcggg gctccctgct gggctgctcc
      841 atagacatct ccagcgttct agacatggag gccatcactt tcaagaagtt ggtgaagggc
      901 catgcctact ctgtgaccgg ggccaagcag gtgaactacc gaggccaggt ggtgagcctg
      961 atccggatgc ggaacccctg gggcgaggtg gagtggacgg gagcctggag cgacagctcc
     1021 tcagagtgga acaacgtgga cccatatgaa cgggaccagc tccgggtcaa gatggaggac
     1081 ggggagttct ggatgtcatt ccgagacttc atgcgggagt tcacccgcct ggagatctgc
     1141 aacctcacac ccgacgccct caagagccgg accatccgca aatggaacac cacactctac
     1201 gaaggcacct ggcggcgggg gagcaccgcg gggggctgcc gaaactaccc agccaccttc
     1261 tgggtgaacc ctcagttcaa gatccggctg gatgagacgg atgacccgga cgactacggg
     1321 gaccgcgagt caggctgcag cttcgtgctc gcccttatgc agaagcaccg tcgccgcgag
     1381 cgccgcttcg gccgcgacat ggagactatt ggcttcgcgg tctacgaggt ccctccggag
     1441 ctggtgggcc agccggccgt acacttgaag cgtgacttct tcctggccaa tgcgtctcgg
     1501 gcgcgctcag agcagttcat caacctgcga gaggtcagca cccgcttccg cctgccaccc
     1561 ggggagtatg tggtggtgcc ctccaccttc gagcccaaca aggagggcga cttcgtgctg
     1621 cgcttcttct cagagaagag tgctgggact gtggagctgg atgaccagat ccaggccaat
     1681 ctccccgatg agcaagtgct ctcagaagag gagattgacg agaacttcaa ggccctcttc
     1741 aggcagctgg caggggagga catggagatc agcgtgaagg agttgcggac aatcctcaat
     1801 aggatcatca gcaaacacaa agacctgcgg accaagggct tcagcctaga gtcgtgccgc
     1861 agcatggtga acctcatgga tcgtgatggc aatgggaagc tgggcctggt ggagttcaac
     1921 atcctgtgga accgcatccg gaattacctg tccatcttcc ggaagtttga cctggacaag
     1981 tcgggcagca tgagtgccta cgagatgcgg atggccattg agtcggcagg cttcaagctc
     2041 aacaagaagc tgtacgagct catcatcacc cgctactcgg agcccgacct ggcggtcgac
     2101 tttgacaatt tcgtttgctg cctggtgcgg ctagagacca tgttccgatt tttcaaaact
     2161 ctggacacag atctggatgg agttgtgacc tttgacttgt ttaagtggtt gcagctgacc
     2221 atgtttgcat gaggcaggga ctcggtcccc cttgccgtgc tcccctccct cctcgtctgc
     2281 caagcctcgc ctcctaccac accacaccag gccaccccag ctgcaagtgc cttccttgga
     2341 gcagagaggc agcctcgtcc tcctgtcccc tctcctccca gccaccatcg ttcatctgct
     2401 ccgggcagaa ctgtgtggcc cctgcctgtg ccagccatgg gctcgggatg gactccctgg
     2461 gccccaccca ttgccaagcc aggaaggcag ctttcgcttg ttcctgcctc gggacagccc
     2521 cgggtttccc cagcatcctg atgtgtcccc tctccccact tcagaggcca cccactcagc
     2581 accaccggcc tggccttgcc tgcagactat aaactataac cactagctcg acacagtctg
     2641 cagtccaggc gtgtggagcc gcctcccggc tcggggaggc cccggggctg ggaacgcctg
     2701 tgccttcctg cgccgaagcc aacgccccct ctgtccttcc ctggccctgc tgccgaccag
     2761 gagctgccca gcctgtgggc ggtcggcctt ccctccttcg ctcctttttt atattagtga
     2821 ttttaaaggg gactcttcag ggacttgtgt actggttatg ggggtgccag aggcactagg
     2881 cttggggtgg ggaggtcccg tgttccatat agaggaaccc caaataataa aaggccccac
     2941 atctgtctgt ga
//
