LOCUS       NM_144575               2683 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens calpain 13 (CAPN13), mRNA.
ACCESSION   NM_144575
VERSION     NM_144575.3
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 2683)
  AUTHORS   Mo,H.Y., Choi,E.J., Yoo,N.J. and Lee,S.H.
  TITLE     Inactivating mutations of tumor suppressor genes ABCA1 and CAPN13
            in colorectal cancers
  JOURNAL   Pathol Res Pract 216 (5), 152870 (2020)
   PUBMED   32088085
  REMARK    GeneRIF: Inactivating mutations of tumor suppressor genes ABCA1 and
            CAPN13 in colorectal cancers.
REFERENCE   2  (bases 1 to 2683)
  AUTHORS   Ng,M.C., Shriner,D., Chen,B.H., Li,J., Chen,W.M., Guo,X., Liu,J.,
            Bielinski,S.J., Yanek,L.R., Nalls,M.A., Comeau,M.E.,
            Rasmussen-Torvik,L.J., Jensen,R.A., Evans,D.S., Sun,Y.V., An,P.,
            Patel,S.R., Lu,Y., Long,J., Armstrong,L.L., Wagenknecht,L.,
            Yang,L., Snively,B.M., Palmer,N.D., Mudgal,P., Langefeld,C.D.,
            Keene,K.L., Freedman,B.I., Mychaleckyj,J.C., Nayak,U., Raffel,L.J.,
            Goodarzi,M.O., Chen,Y.D., Taylor,H.A. Jr., Correa,A., Sims,M.,
            Couper,D., Pankow,J.S., Boerwinkle,E., Adeyemo,A., Doumatey,A.,
            Chen,G., Mathias,R.A., Vaidya,D., Singleton,A.B., Zonderman,A.B.,
            Igo,R.P. Jr., Sedor,J.R., Kabagambe,E.K., Siscovick,D.S.,
            McKnight,B., Rice,K., Liu,Y., Hsueh,W.C., Zhao,W., Bielak,L.F.,
            Kraja,A., Province,M.A., Bottinger,E.P., Gottesman,O., Cai,Q.,
            Zheng,W., Blot,W.J., Lowe,W.L., Pacheco,J.A., Crawford,D.C.,
            Grundberg,E., Rich,S.S., Hayes,M.G., Shu,X.O., Loos,R.J.,
            Borecki,I.B., Peyser,P.A., Cummings,S.R., Psaty,B.M., Fornage,M.,
            Iyengar,S.K., Evans,M.K., Becker,D.M., Kao,W.H., Wilson,J.G.,
            Rotter,J.I., Sale,M.M., Liu,S., Rotimi,C.N. and Bowden,D.W.
  CONSRTM   FIND Consortium; eMERGE Consortium; DIAGRAM Consortium; MuTHER
            Consortium; MEta-analysis of type 2 DIabetes in African Americans
            Consortium
  TITLE     Meta-analysis of genome-wide association studies in African
            Americans provides insights into the genetic architecture of type 2
            diabetes
  JOURNAL   PLoS Genet 10 (8), e1004517 (2014)
   PUBMED   25102180
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2683)
  AUTHORS   Taylor,J.Y., Sun,Y.V., Hunt,S.C. and Kardia,S.L.
  TITLE     Gene-environment interaction for hypertension among African
            American women across generations
  JOURNAL   Biol Res Nurs 12 (2), 149-155 (2010)
   PUBMED   20591971
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   4  (bases 1 to 2683)
  AUTHORS   Dear,T.N. and Boehm,T.
  TITLE     Identification and characterization of two novel calpain large
            subunit genes
  JOURNAL   Gene 274 (1-2), 245-252 (2001)
   PUBMED   11675017
REFERENCE   5  (bases 1 to 2683)
  AUTHORS   Dear,T.N., Meier,N.T., Hunn,M. and Boehm,T.
  TITLE     Gene structure, chromosomal localization, and expression pattern of
            Capn12, a new member of the calpain large subunit gene family
  JOURNAL   Genomics 68 (2), 152-160 (2000)
   PUBMED   10964513
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092569.2, BX476842.1, AK074418.1, BX640793.1, BM127691.1 and
            BX647678.1.
            
            On Nov 23, 2018 this sequence version replaced NM_144575.2.
            
            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 a member of the calpain large
            subunit family. [provided by RefSeq, Jun 2012].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX640793.1, SRR1803611.234053.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295055.12/ ENSP00000295055.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AC092569.2         119750-119750       c
            2-448               BX476842.1         15-461
            449-1014            AK074418.1         515-1080
            1015-1861           BX640793.1         1014-1860
            1862-1899           BM127691.1         465-502
            1900-2475           BX647678.1         2125-2700
            2476-2683           BX640793.1         2475-2682
FEATURES             Location/Qualifiers
     source          1..2683
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.1"
     gene            1..2683
                     /gene="CAPN13"
                     /note="calpain 13"
                     /db_xref="GeneID:92291"
                     /db_xref="HGNC:HGNC:16663"
                     /db_xref="MIM:610228"
     exon            1..145
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     exon            146..375
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     CDS             178..2187
                     /gene="CAPN13"
                     /note="CANP 13; calcium-activated neutral proteinase 13"
                     /codon_start=1
                     /product="calpain-13"
                     /protein_id="NP_653176.2"
                     /db_xref="CCDS:CCDS46252.1"
                     /db_xref="GeneID:92291"
                     /db_xref="HGNC:HGNC:16663"
                     /db_xref="MIM:610228"
                     /translation="MAYYQEPSVETSIIKFKDQDFTTLRDHCLSMGRTFKDETFPAAD
                     SSIGQKLLQEKRLSNVIWKRPQDLPGGPPHFILDDISRFDIQQGGAADCWFLAALGSL
                     TQNPQYRQKILMVQSFSHQYAGIFRFRFWQCGQWVEVVIDDRLPVQGDKCLFVRPRHQ
                     NQEFWPCLLEKAYAKLLGSYSDLHYGFLEDALVDLTGGVITNIHLHSSPVDLVKAVKT
                     ATKAGSLITCATPSGPTDTAQAMENGLVSLHAYTVTGAEQIQYRRGWEEIISLWNPWG
                     WGEAEWRGRWSDGSQEWEETCDPRKSQLHKKREDGEFWMSCQDFQQKFIAMFICSEIP
                     ITLDHGNTLHEGWSQIMFRKQVILGNTAGGPRNDAQFNFSVQEPMEGTNVVVCVTVAV
                     TPSNLKAEDAKFPLDFQVILAGSQRFREKFPPVFFSSFRNTVQSSNNKFRRNFTMTYH
                     LSPGNYVVVAQTRRKSAEFLLRIFLKMPDSDRHLSSHFNLRMKGSPSEHGSQQSIFNR
                     YAQQRLDIDATQLQGLLNQELLTGPPGDMFSLDECRSLVALMELKVNGRLDQEEFARL
                     WKRLVHYQHVFQKVQTSPGVLLSSDLWKAIENTDFLRGIFISRELLHLVTLRYSDSVG
                     RVSFPSLVCFLMRLEAMAKTFRNLSKDGKGLYLTEMEWMSLVMYN"
     exon            376..448
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     exon            449..564
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     exon            565..701
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     exon            702..876
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     exon            877..951
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     exon            952..1043
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     exon            1044..1118
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     exon            1119..1264
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     exon            1265..1413
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     exon            1414..1425
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     exon            1426..1622
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     exon            1623..1656
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     exon            1657..1713
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     exon            1714..1771
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     exon            1772..1830
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     exon            1831..1899
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     exon            1900..1975
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     exon            1976..2104
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     exon            2105..2160
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     exon            2161..2217
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     exon            2218..2683
                     /gene="CAPN13"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2662..2667
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAPN13"
                     /note="hexamer: AATAAA"
     polyA_site      2683
                     /gene="CAPN13"
                     /note="major polyA site"
ORIGIN      
        1 aagcagacac cagcactgct ctttctccaa gacggccggc catgctctcc tcctctgcca
       61 gtctcctcca ccactctcta acctgagagc ctgtggaacc tgcccgtctc ccctcctcca
      121 tcagacacac ctgcctagga aacaggaaag gacctcggaa gtcttctaag gagagtcatg
      181 gcgtattacc aggagccttc agtggagacc tccatcatca agttcaaaga ccaggacttt
      241 accaccttgc gggatcactg cctgagcatg ggccggacgt ttaaggatga gacattccct
      301 gcagcagatt cttccatagg ccagaagctg ctccaggaaa aacgcctctc caatgtgata
      361 tggaagcggc cacaggatct accagggggt cctcctcact tcatcctgga tgatataagc
      421 agatttgaca tccaacaagg aggcgcagct gactgctggt tcctggcagc actgggatcc
      481 ttgactcaga acccacagta caggcagaag atcctgatgg tccaaagctt ttcacaccag
      541 tatgctggca ttttccgttt ccggttctgg caatgtggcc agtgggtgga agtggtgatt
      601 gatgaccgcc tacctgtcca gggagataaa tgcctctttg tgcgtcctcg ccaccaaaac
      661 caagagttct ggccctgcct gctggagaag gcctatgcca agctgctcgg atcctattcc
      721 gatctgcact atggcttcct cgaggatgcc ctggtggacc tcacaggagg cgtgatcacc
      781 aacatccatc tgcactcttc ccctgtggac ctggtgaagg cagtgaagac agcgaccaag
      841 gcaggctccc tgataacctg tgccactcca agtgggccaa cagatacagc acaggcgatg
      901 gagaatgggc tggtgagtct ccatgcctac actgtgactg gggctgagca gattcaatac
      961 cgaaggggct gggaagaaat tatctccctg tggaacccct ggggctgggg cgaggccgaa
     1021 tggagagggc gctggagtga tgggtctcag gagtgggagg aaacctgtga tccgcggaaa
     1081 agccagctac ataagaaacg ggaagatggc gagttttgga tgtcgtgtca agatttccaa
     1141 cagaaattca tcgccatgtt tatatgtagc gaaattccaa ttaccctgga ccatggaaac
     1201 acactccacg aaggatggtc ccaaataatg tttaggaagc aagtgattct aggaaacact
     1261 gcaggaggac ctcggaatga tgctcaattc aacttctctg tgcaagagcc aatggaaggc
     1321 accaatgttg tcgtgtgcgt cacagttgct gtcacaccat caaatttgaa agcagaagat
     1381 gcaaaatttc cactcgattt ccaagtgatt ctggctggct cacagcggtt ccgggagaaa
     1441 tttccacccg tgtttttttc ctcgttcaga aacactgtcc aaagctcaaa taataaattc
     1501 cgccgcaact tcaccatgac ttaccatctg agccctggga actatgttgt ggttgcacag
     1561 acacggagaa aatcagcgga gttcttgctc cgaatcttcc tgaaaatgcc agacagtgac
     1621 aggcacctga gcagccattt caacctcaga atgaagggaa gcccttcaga acatggctcc
     1681 caacaaagca ttttcaacag atatgctcag cagaggctgg acattgatgc cacccagctt
     1741 cagggccttc tcaaccagga gcttctaaca ggacctccag gggacatgtt ctccttagat
     1801 gagtgccgca gcttggtggc tctgatggaa ctgaaagtga atgggcggct agaccaagag
     1861 gagtttgcgc gactgtggaa gcgccttgtt cactaccagc atgttttcca gaaggttcag
     1921 acaagccctg gagtcctcct gagctcggac ttgtggaagg ccatagagaa tacagacttc
     1981 ctcagaggga tcttcatcag ccgtgagctg ctgcatctgg tgaccctcag gtacagcgac
     2041 agcgtcggca gggtcagctt ccccagcctg gtctgcttcc tgatgcggct tgaagccatg
     2101 gcaaagacct tccgcaacct ctctaaggat ggaaaaggac tctacctgac agaaatggag
     2161 tggatgagcc tggtcatgta caactgaagc aaagaggaaa gcagacccat ggctcaggac
     2221 aagctcccag tgatcactca agaatctggc tctcattcta agaggctgtg ctgcccagta
     2281 tggtggttgt gataaatcta aaccagccct gcatgaaaca gagtccaagc tgtctcccaa
     2341 cagcctgggt tcggtccttg gctggcccag gcccagttaa gcctgtggcc accaagcagc
     2401 tcatctgagc actttgggat gtattcagcc tacgttgccc tggaaaagga agcaggagat
     2461 gtctccctgt gggaaaggag aagagaagtt gtctctgagt cccctgtcac cagttggatt
     2521 catttcttgg aagagccaga atgagccact ttgaccaccc tcgggtgcta tgggtgacac
     2581 aagagctgtc cactgggtgt ttgcagaata attacactat cttatgtctg gatcctgatg
     2641 atttcacagc taaatggcaa aaataaaaca tgtttcccat aaa
//
