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    CAPN5 calpain 5 [ Homo sapiens (human) ]

    Gene ID: 726, updated on 6-Jun-2017
    Official Symbol
    CAPN5provided by HGNC
    Official Full Name
    calpain 5provided by HGNC
    Primary source
    HGNC:HGNC:1482
    See related
    Ensembl:ENSG00000149260 MIM:602537; Vega:OTTHUMG00000165192
    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
    VRNI; ADNIV; HTRA3; nCL-3
    Summary
    Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    11q13.5
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (77066945..77126155)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (76777992..76837201)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369399 Neighboring gene uncharacterized LOC105369400 Neighboring gene olfactory marker protein Neighboring gene myosin VIIA Neighboring gene glycerophosphodiester phosphodiesterase domain containing 4

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Vitreoretinopathy, neovascular inflammatory
    MedGen: C1860404 OMIM: 193235 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
    NHGRI GWA Catalog
    Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
    NHGRI GWA Catalog
    • 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 ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ46245

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium-dependent cysteine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    calpain-5
    Names
    calpain htra-3
    new calpain 3
    testis tissue sperm-binding protein Li 91mP

    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_033002.1 RefSeqGene

      Range
      5001..64210
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004055.4NP_004046.2  calpain-5

      See identical proteins and their annotated locations for NP_004046.2

      Status: REVIEWED

      Source sequence(s)
      AP000752, BC018123
      Consensus CDS
      CCDS8248.1
      UniProtKB/Swiss-Prot
      O15484
      UniProtKB/TrEMBL
      A0A140VKH4
      Related
      ENSP00000278559.3, OTTHUMP00000228836, ENST00000278559.7, OTTHUMT00000382564
      Conserved Domains (3) summary
      smart00230
      Location:13351
      CysPc; Calpain-like thiol protease family
      cd04046
      Location:515638
      C2_Calpain; C2 domain present in Calpain proteins
      pfam01067
      Location:354493
      Calpain_III; Calpain large subunit, domain III

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      77066945..77126155
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545225.1XP_011543527.1  calpain-5 isoform X1

      See identical proteins and their annotated locations for XP_011543527.1

      Conserved Domains (3) summary
      smart00230
      Location:53391
      CysPc; Calpain-like thiol protease family
      cd04046
      Location:555678
      C2_Calpain; C2 domain present in Calpain proteins
      pfam01067
      Location:394533
      Calpain_III; Calpain large subunit, domain III
    2. XM_017018223.1XP_016873712.1  calpain-5 isoform X2

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      76661081..76720452
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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