LOCUS       NM_023083               2621 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.
ACCESSION   NM_023083
VERSION     NM_023083.4
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 2621)
  AUTHORS   He,J., Zhang,M., Ren,J. and Jiang,X.
  TITLE     Correlation between TCF7L2 and CAPN10 gene polymorphisms and
            gestational diabetes mellitus in different geographical regions: a
            meta-analysis
  JOURNAL   BMC Pregnancy Childbirth 24 (1), 15 (2024)
   PUBMED   38166877
  REMARK    GeneRIF: Correlation between TCF7L2 and CAPN10 gene polymorphisms
            and gestational diabetes mellitus in different geographical
            regions: a meta-analysis.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2621)
  AUTHORS   Alageel,A.A., Alshammary,A.F. and Ali Khan,I.
  TITLE     Molecular role of non-exonic variants in CALPAIN 10 gene in
            polycystic ovarian syndrome in Saudi women
  JOURNAL   Front Endocrinol (Lausanne) 14, 1303747 (2023)
   PUBMED   38213994
  REMARK    GeneRIF: Molecular role of non-exonic variants in CALPAIN 10 gene
            in polycystic ovarian syndrome in Saudi women.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2621)
  AUTHORS   Dong,B. and Liu,R.
  TITLE     Characterization of endogenous and recombinant human calpain-10
  JOURNAL   Biochimie 90 (9), 1362-1371 (2008)
   PUBMED   18452715
  REMARK    GeneRIF: calpain-10 may require a special intracellular
            localization or interacting partner(s) to acquire proteolytic
            activity
REFERENCE   4  (bases 1 to 2621)
  AUTHORS   Turner,M.D., Cassell,P.G. and Hitman,G.A.
  TITLE     Calpain-10: from genome search to function
  JOURNAL   Diabetes Metab Res Rev 21 (6), 505-514 (2005)
   PUBMED   16028216
  REMARK    GeneRIF: Calpain 10 is a molecule of importance to insulin
            signaling and secretion that may have relevance to the future
            development of novel therapeutic targets for the treatment of
            T2D[review]
            Review article
REFERENCE   5  (bases 1 to 2621)
  AUTHORS   Logie,L.J., Brown,A.E., Yeaman,S.J. and Walker,M.
  TITLE     Calpain inhibition and insulin action in cultured human muscle
            cells
  JOURNAL   Mol Genet Metab 85 (1), 54-60 (2005)
   PUBMED   15862281
  REMARK    GeneRIF: Studies confirm calpain 10 expression in cultured muscle
            cells and support calpains in insulin-stimulated glucose uptake in
            human skeletal muscle cells that may be relevant to the
            pathogenesis of the peripheral insulin resistance in type 2
            diabetes.
REFERENCE   6  (bases 1 to 2621)
  AUTHORS   Marshall,C., Hitman,G.A., Partridge,C.J., Clark,A., Ma,H.,
            Shearer,T.R. and Turner,M.D.
  TITLE     Evidence that an isoform of calpain-10 is a regulator of exocytosis
            in pancreatic beta-cells
  JOURNAL   Mol Endocrinol 19 (1), 213-224 (2005)
   PUBMED   15471947
  REMARK    GeneRIF: an isoform of calpain-10 is a Ca2+-sensor that functions
            to trigger exocytosis in pancreatic beta-cells
REFERENCE   7  (bases 1 to 2621)
  AUTHORS   Ma,H., Fukiage,C., Kim,Y.H., Duncan,M.K., Reed,N.A., Shih,M.,
            Azuma,M. and Shearer,T.R.
  TITLE     Characterization and expression of calpain 10. A novel ubiquitous
            calpain with nuclear localization
  JOURNAL   J Biol Chem 276 (30), 28525-28531 (2001)
   PUBMED   11375982
REFERENCE   8  (bases 1 to 2621)
  AUTHORS   Baier,L.J., Permana,P.A., Yang,X., Pratley,R.E., Hanson,R.L.,
            Shen,G.Q., Mott,D., Knowler,W.C., Cox,N.J., Horikawa,Y., Oda,N.,
            Bell,G.I. and Bogardus,C.
  TITLE     A calpain-10 gene polymorphism is associated with reduced muscle
            mRNA levels and insulin resistance
  JOURNAL   J Clin Invest 106 (7), R69-R73 (2000)
   PUBMED   11018080
REFERENCE   9  (bases 1 to 2621)
  AUTHORS   Horikawa,Y., Oda,N., Cox,N.J., Li,X., Orho-Melander,M., Hara,M.,
            Hinokio,Y., Lindner,T.H., Mashima,H., Schwarz,P.E., del
            Bosque-Plata,L., Horikawa,Y., Oda,Y., Yoshiuchi,I., Colilla,S.,
            Polonsky,K.S., Wei,S., Concannon,P., Iwasaki,N., Schulze,J.,
            Baier,L.J., Bogardus,C., Groop,L., Boerwinkle,E., Hanis,C.L. and
            Bell,G.I.
  TITLE     Genetic variation in the gene encoding calpain-10 is associated
            with type 2 diabetes mellitus
  JOURNAL   Nat Genet 26 (2), 163-175 (2000)
   PUBMED   11017071
  REMARK    Erratum:[Nat Genet 2000 Dec;26(4):502]
REFERENCE   10 (bases 1 to 2621)
  AUTHORS   Sorimachi,H., Ishiura,S. and Suzuki,K.
  TITLE     Structure and physiological function of calpains
  JOURNAL   Biochem J 328 (Pt 3) (Pt 3), 721-732 (1997)
   PUBMED   9396712
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC124862.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_023083.3.
            
            Summary: Calpains represent a ubiquitous, well-conserved family of
            calcium-dependent cysteine proteases. The calpain proteins are
            heterodimers consisting of an invariant small subunit and variable
            large subunits. The large catalytic subunit has four domains:
            domain I, the N-terminal regulatory domain that is processed upon
            calpain activation; domain II, the protease domain; domain III, a
            linker domain of unknown function; and domain IV, the
            calmodulin-like calcium-binding domain. This gene encodes a large
            subunit. It is an atypical calpain in that it lacks the
            calmodulin-like calcium-binding domain and instead has a divergent
            C-terminal domain. It is similar in organization to calpains 5 and
            6. This gene is associated with type 2 or non-insulin-dependent
            diabetes mellitus (NIDDM), and is located within the NIDDM1 region.
            Multiple alternative transcript variants have been described for
            this gene. [provided by RefSeq, Sep 2010].
            
            Transcript Variant: This variant (1, also known as CAPN10a)
            represents the longer transcript and encodes the longer 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 :: AF089088.1, AK074807.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000391984.7/ ENSP00000375844.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-319               AC124862.4         48355-48673         c
            320-451             AC124862.4         45933-46064         c
            452-648             AC124862.4         44396-44592         c
            649-866             AC124862.4         43257-43474         c
            867-1008            AC124862.4         41360-41501         c
            1009-1175           AC124862.4         40698-40864         c
            1176-1456           AC124862.4         40103-40383         c
            1457-1659           AC124862.4         38886-39088         c
            1660-1921           AC124862.4         38465-38726         c
            1922-2121           AC124862.4         37320-37519         c
            2122-2167           AC124862.4         37010-37055         c
            2168-2621           AC124862.4         36303-36756         c
FEATURES             Location/Qualifiers
     source          1..2621
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.3"
     gene            1..2621
                     /gene="CAPN10"
                     /gene_synonym="CANP10; NIDDM1"
                     /note="calpain 10"
                     /db_xref="GeneID:11132"
                     /db_xref="HGNC:HGNC:1477"
                     /db_xref="MIM:605286"
     exon            1..319
                     /gene="CAPN10"
                     /gene_synonym="CANP10; NIDDM1"
                     /inference="alignment:Splign:2.1.0"
     CDS             179..2197
                     /gene="CAPN10"
                     /gene_synonym="CANP10; NIDDM1"
                     /note="isoform a is encoded by transcript variant 1;
                     calpain-like protease CAPN10; calcium-activated neutral
                     proteinase 10"
                     /codon_start=1
                     /product="calpain-10 isoform a"
                     /protein_id="NP_075571.2"
                     /db_xref="CCDS:CCDS42838.1"
                     /db_xref="GeneID:11132"
                     /db_xref="HGNC:HGNC:1477"
                     /db_xref="MIM:605286"
                     /translation="MRAGRGATPARELFRDAAFPAADSSLFCDLSTPLAQFREDITWR
                     RPQEICATPRLFPDDPREGQVKQGLLGDCWFLCACAALQKSRHLLDQVIPPGQPSWAD
                     QEYRGSFTCRIWQFGRWVEVTTDDRLPCLAGRLCFSRCQREDVFWLPLLEKVYAKVHG
                     SYEHLWAGQVADALVDLTGGLAERWNLKGVAGSGGQQDRPGRWEHRTCRQLLHLKDQC
                     LISCCVLSPRAGARELGEFHAFIVSDLRELQGQAGQCILLLRIQNPWGRRCWQGLWRE
                     GGEGWSQVDAAVASELLSQLQEGEFWVEEEEFLREFDELTVGYPVTEAGHLQSLYTER
                     LLCHTRALPGAWVKGQSAGGCRNNSGFPSNPKFWLRVSEPSEVYIAVLQRSRLHAADW
                     AGRARALVGDSHTSWSPASIPGKHYQAVGLHLWKVEKRRVNLPRVLSMPPVAGTACHA
                     YDREVHLRCELSPGYYLAVPSTFLKDAPGEFLLRVFSTGRVSLSAIRAVAKNTTPGAA
                     LPAGEWGTVQLRGSWRVGQTAGGSRNFASYPTNPCFPFSVPEGPGPRCVRITLHQHCR
                     PSDTEFHPIGFHIFQVPEGGRSQDAPPLLLQEPLLSCVPHRYAQEVSRLCLLPAGTYK
                     VVPSTYLPDTEGAFTVTIATRIDRPSIHSQEMLGQFLQEVSIMAVMKT"
     exon            320..451
                     /gene="CAPN10"
                     /gene_synonym="CANP10; NIDDM1"
                     /inference="alignment:Splign:2.1.0"
     exon            452..648
                     /gene="CAPN10"
                     /gene_synonym="CANP10; NIDDM1"
                     /inference="alignment:Splign:2.1.0"
     exon            649..866
                     /gene="CAPN10"
                     /gene_synonym="CANP10; NIDDM1"
                     /inference="alignment:Splign:2.1.0"
     exon            867..1008
                     /gene="CAPN10"
                     /gene_synonym="CANP10; NIDDM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1009..1175
                     /gene="CAPN10"
                     /gene_synonym="CANP10; NIDDM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1176..1456
                     /gene="CAPN10"
                     /gene_synonym="CANP10; NIDDM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1457..1659
                     /gene="CAPN10"
                     /gene_synonym="CANP10; NIDDM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1660..1921
                     /gene="CAPN10"
                     /gene_synonym="CANP10; NIDDM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1922..2121
                     /gene="CAPN10"
                     /gene_synonym="CANP10; NIDDM1"
                     /inference="alignment:Splign:2.1.0"
     exon            2122..2167
                     /gene="CAPN10"
                     /gene_synonym="CANP10; NIDDM1"
                     /inference="alignment:Splign:2.1.0"
     exon            2168..2621
                     /gene="CAPN10"
                     /gene_synonym="CANP10; NIDDM1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2595..2600
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPN10"
                     /gene_synonym="CANP10; NIDDM1"
                     /note="hexamer: AATAAA"
     polyA_site      2621
                     /gene="CAPN10"
                     /gene_synonym="CANP10; NIDDM1"
                     /note="major polyA site"
ORIGIN      
        1 agactagcgg gccggcgtac tggcctggtc cagcacctgc ggggccctcg ggcttggagg
       61 gctgggccgg gcggggaacg ggcggggcgg gccggaggcg gcggcggctg actcgccttc
      121 tctccggggc tgcgaccccg aggcaaccgg ctgcagatgg gagcccgcgg agccgaggat
      181 gcgggcgggc cggggcgcga cgccggcgag ggagctgttc cgggacgccg ccttccccgc
      241 cgcggactcc tcgctcttct gcgacttgtc tacgccgctg gcccagttcc gcgaggacat
      301 cacgtggagg cggccccagg agatttgtgc cacaccccgg ctgtttccag atgacccacg
      361 ggaagggcag gtgaagcagg ggctgctggg ggattgctgg ttcctgtgtg cctgcgccgc
      421 gctgcagaag agcaggcacc tcctggacca ggtcattcct ccgggacagc cgagctgggc
      481 cgaccaggag taccggggct ccttcacctg tcgcatttgg cagtttggac gctgggtgga
      541 ggtgaccaca gatgaccgcc tgccgtgcct tgcagggaga ctctgtttct cccgctgcca
      601 gagggaggat gtgttctggc tccccttact ggaaaaggtc tacgccaagg tccatgggtc
      661 ctacgagcac ctgtgggccg ggcaggtggc ggatgccctg gtggacctga ccggcggcct
      721 ggcagaaaga tggaacctga agggcgtagc aggaagcgga ggccagcagg acaggccagg
      781 ccgctgggag cacaggactt gtcggcagct gctccacctg aaggaccagt gtctgatcag
      841 ctgctgcgtg ctcagcccca gagcaggtgc ccgggagctg ggggagttcc atgccttcat
      901 tgtctcggac ctgcgggagc tccagggtca ggcgggccag tgcatcctgc tgctgcggat
      961 ccagaacccc tggggccggc ggtgctggca ggggctctgg agagaggggg gtgaagggtg
     1021 gagccaggta gatgcagcgg tagcatctga gctcctgtcc cagctccagg aaggggagtt
     1081 ctgggtggag gaggaggagt tcctcaggga gtttgacgag ctcaccgttg gctacccggt
     1141 cacggaggcc ggccacctgc agagcctcta cacagagagg ctgctctgcc atacgcgggc
     1201 gctgcctggg gcctgggtca agggccagtc agcaggaggc tgccggaaca acagcggctt
     1261 tcccagcaac cccaaattct ggctgcgggt ctcagaaccg agtgaggtgt acattgccgt
     1321 cctgcagaga tccaggctgc acgcggcgga ctgggcaggc cgggcccggg cactggtggg
     1381 tgacagtcat acttcgtgga gcccagcgag catcccgggc aagcactacc aggctgtggg
     1441 tctgcacctc tggaaggtag agaagcggcg ggtcaatctg cctagggtcc tgtccatgcc
     1501 ccccgtggct ggcaccgcgt gccatgcata cgaccgggag gtccacctgc gttgtgagct
     1561 ctcaccgggc tactacctgg ctgtccccag caccttcctg aaggacgcgc caggggagtt
     1621 cctgctccga gtcttctcta ccgggcgagt ctcccttagc gccatcaggg cagtggccaa
     1681 gaacaccacc cccggggcag ccctgcctgc gggggagtgg gggaccgtgc agctacgggg
     1741 ttcttggaga gtcggccaga cggcgggggg cagcaggaac tttgcctcat accccaccaa
     1801 cccctgcttc cccttctcgg tccccgaggg ccctggcccc cgctgcgtcc gcatcactct
     1861 gcatcagcac tgccggccca gtgacaccga gttccacccc atcggcttcc atatcttcca
     1921 ggtcccagag ggtggaagga gccaggacgc acccccactg ctgctgcagg agccgctgct
     1981 gagctgcgtg ccacatcgct acgcccagga ggtgagccgg ctctgcctcc tgcctgcggg
     2041 cacctacaag gttgtgccct ccacctacct gccggacaca gagggggcct tcacagtgac
     2101 catcgcaacc aggattgaca ggccatccat tcacagccag gagatgctgg gccagttcct
     2161 ccaagaggtc tccatcatgg cagtgatgaa aacctaacag ggtggccccc tgtgccagct
     2221 caggtgactg gagcccgagg gcctgacagg ttcccagcag ctgggccggc cagccttgca
     2281 ctgtgggggc tggtcctgag tcttggcctg cctcccagcc ctgccaggag gctgcggcct
     2341 aggggtccac gggaagcctc cgtcaggaga gacgcagccc tgggggccag ctggtgctgc
     2401 aaggaagggt gggaagcttg ctggcttctg ttgcgccact gagacggcag agaccccagg
     2461 atcccagagc ttcccaggat ccctcccaga tcctctgctg actccatatg gaggcctcac
     2521 acccagaggg tagggcagca gatcttcttt ataactattt attgttcgaa tcacttttag
     2581 gatgtaactt tataaataaa catgagcgct gatgatttgc a
//
