Format

Send to:

Choose Destination
    • Showing Current items.

    CAPN6 calpain 6 [ Homo sapiens (human) ]

    Gene ID: 827, updated on 15-Apr-2019

    Summary

    Official Symbol
    CAPN6provided by HGNC
    Official Full Name
    calpain 6provided by HGNC
    Primary source
    HGNC:HGNC:1483
    See related
    Ensembl:ENSG00000077274 MIM:300146
    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
    CANPX; CAPNX; CalpM; DJ914P14.1
    Summary
    Calpains are 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 subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is highly expressed in the placenta. Its C-terminal region lacks any homology to the calmodulin-like domain of other calpains. The protein lacks critical active site residues and thus is suggested to be proteolytically inactive. The protein may play a role in tumor formation by inhibiting apoptosis and promoting angiogenesis. [provided by RefSeq, Nov 2009]
    Expression
    Biased expression in placenta (RPKM 59.5), endometrium (RPKM 13.7) and 5 other tissues See more
    Orthologs

    Genomic context

    See CAPN6 in Genome Data Viewer
    Location:
    Xq23
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (111245099..111270546, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (110488327..110513774, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene p21 (RAC1) activated kinase 3 Neighboring gene FCF1 pseudogene 4 Neighboring gene glutamate dehydrogenase 1 pseudogene 9 Neighboring gene doublecortin Neighboring gene RNA, U6 small nuclear 496, 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?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of calpain 6 (CAPN6) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium-dependent cysteine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    NOT calcium-dependent cysteine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    microtubule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    microtubule bundle formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    spindle microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    calpain-6
    Names
    calpain-like protease X-linked
    calpamodulin

    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_015962.1 RefSeqGene

      Range
      5001..30448
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014289.4NP_055104.2  calpain-6

      See identical proteins and their annotated locations for NP_055104.2

      Status: REVIEWED

      Source sequence(s)
      AL031117
      Consensus CDS
      CCDS14555.1
      UniProtKB/Swiss-Prot
      Q9Y6Q1
      Related
      ENSP00000317214.1, ENST00000324068.2
      Conserved Domains (3) summary
      smart00230
      Location:13351
      CysPc; Calpain-like thiol protease family
      cd04046
      Location:514639
      C2_Calpain; C2 domain present in Calpain proteins
      cd00214
      Location:349497
      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_000023.11 Reference GRCh38.p12 Primary Assembly

      Range
      111245099..111270546 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center