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    CAPN10 calpain 10 [ Homo sapiens (human) ]

    Gene ID: 11132, updated on 21-Apr-2019

    Summary

    Official Symbol
    CAPN10provided by HGNC
    Official Full Name
    calpain 10provided by HGNC
    Primary source
    HGNC:HGNC:1477
    See related
    Ensembl:ENSG00000142330 MIM:605286
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CANP10; NIDDM1
    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]
    Expression
    Ubiquitous expression in spleen (RPKM 8.4), testis (RPKM 6.6) and 25 other tissues See more
    Orthologs

    Genomic context

    See CAPN10 in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (240586716..240599109)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (241526133..241538526)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene arginyl aminopeptidase like 1 Neighboring gene CAPN10 divergent transcript Neighboring gene G protein-coupled receptor 35 Neighboring gene galactose-3-O-sulfotransferase 1 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
      Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • Integrin-mediated Cell Adhesion, organism-specific biosystem (from WikiPathways)
      Integrin-mediated Cell Adhesion, organism-specific biosystemIntegrins are receptors that mediate attachment between a cell and the tissues surrounding it, which may be other cells or the extracellular matrix (ECM). They also play a role in cell signaling and ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: GPR35

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SNARE binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    calcium-dependent cysteine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytoskeletal protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    actin cytoskeleton reorganization ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    cellular component disassembly involved in execution phase of apoptosis IC
    Inferred by Curator
    more info
     
    cellular response to insulin stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of glucose import IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of insulin secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of intracellular transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    positive regulation of type B pancreatic cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    type B pancreatic cell apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    calpain-10
    Names
    calcium-activated neutral proteinase 10
    calpain-like protease CAPN10
    NP_075573.2

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011558.2 RefSeqGene

      Range
      5001..17394
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_023083.4NP_075571.2  calpain-10 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as CAPN10a) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC124862
      Consensus CDS
      CCDS42838.1
      Related
      ENSP00000375844.2, ENST00000391984.7
      Conserved Domains (2) summary
      cd00044
      Location:2319
      CysPc; Calpains, domains IIa, IIb; calcium-dependent cytoplasmic cysteine proteinases, papain-like. Functions in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction.
      cd00214
      Location:335496
      Calpain_III; Calpain, subdomain III. Calpains are calcium-activated cytoplasmic cysteine proteinases, participate in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction. Catalytic domain and the two calmodulin-like domains are ...
    2. NM_023085.3NP_075573.2  calpain-10 isoform c

      See identical proteins and their annotated locations for NP_075573.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as CAPN10c) lacks two consecutive exons, resulting in the loss of an in-frame segment in the 3' coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AF089091, AK074807, AL558905, AU310002, BQ052841, BQ962770, DA413480
      Consensus CDS
      CCDS33420.1
      UniProtKB/Swiss-Prot
      Q9HC96
      Related
      ENSP00000270362.6, ENST00000354082.8
      Conserved Domains (2) summary
      cd00044
      Location:2319
      CysPc; Calpains, domains IIa, IIb; calcium-dependent cytoplasmic cysteine proteinases, papain-like. Functions in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction.
      cd00214
      Location:335498
      Calpain_III; Calpain, subdomain III. Calpains are calcium-activated cytoplasmic cysteine proteinases, participate in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction. Catalytic domain and the two calmodulin-like domains are ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      240586716..240599109
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_021251.3: Suppressed sequence

      Description
      NM_021251.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    2. NM_023084.1: Suppressed sequence

      Description
      NM_023084.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
    3. NM_023086.1: Suppressed sequence

      Description
      NM_023086.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
    4. NM_023087.1: Suppressed sequence

      Description
      NM_023087.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
    5. NM_023088.1: Suppressed sequence

      Description
      NM_023088.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
    6. NM_023089.1: Suppressed sequence

      Description
      NM_023089.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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