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    CAPN7 calpain 7 [ Homo sapiens (human) ]

    Gene ID: 23473, updated on 5-Aug-2018

    Summary

    Official Symbol
    CAPN7provided by HGNC
    Official Full Name
    calpain 7provided by HGNC
    Primary source
    HGNC:HGNC:1484
    See related
    Ensembl:ENSG00000131375 MIM:606400; Vega:OTTHUMG00000129863
    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
    PALBH; CALPAIN7
    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 function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 16.5), ovary (RPKM 11.2) and 25 other tissues See more
    Orthologs

    Genomic context

    See CAPN7 in Genome Data Viewer
    Location:
    3p25.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (15206226..15252916)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (15247733..15294423)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S3a pseudogene 53 Neighboring gene collagen type VI alpha 4 pseudogene 1 Neighboring gene SH3BP5 antisense RNA 1 Neighboring gene SH3 domain binding protein 5 Neighboring gene RNA, U6 small nuclear 454, 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 Jun 15 11:32:44 2016

    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

    Homology

    Clone Names

    • FLJ36423

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    MIT domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    positive regulation of epithelial cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    self proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular exosome HDA PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    calpain-7
    Names
    calpain like protease
    homolog of Aspergillus Nidulans PALB
    palB homolog

    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.

    mRNA and Protein(s)

    1. NM_014296.2NP_055111.1  calpain-7

      See identical proteins and their annotated locations for NP_055111.1

      Status: REVIEWED

      Source sequence(s)
      AB028639, BC056202, BI464220, BM974327, BX502535
      Consensus CDS
      CCDS2624.1
      UniProtKB/Swiss-Prot
      Q9Y6W3
      UniProtKB/TrEMBL
      Q7Z479
      Related
      ENSP00000253693.2, OTTHUMP00000160302, ENST00000253693.6, OTTHUMT00000252105
      Conserved Domains (4) summary
      smart00720
      Location:687810
      calpain_III; calpain_III domain
      cd00044
      Location:214538
      CysPc; Calpains, domains IIa, IIb; calcium-dependent cytoplasmic cysteine proteinases, papain-like. Functions in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction.
      cd02681
      Location:576
      MIT_calpain7_1; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This sub-family of MIT domains is found in the nuclear thiol protease PalBH. The molecular function of the MIT domain is unclear.
      cl00299
      Location:85159
      MIT; MIT: domain contained within Microtubule Interacting and Trafficking molecules. The MIT domain is found in sorting nexins, the nuclear thiol protease PalBH, the AAA protein spastin and archaebacterial proteins with similar domain architecture, vacuolar ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      15206226..15252916
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533557.3XP_011531859.1  calpain-7 isoform X4

      Conserved Domains (4) summary
      smart00720
      Location:609732
      calpain_III; calpain_III domain
      cd00044
      Location:214554
      CysPc; Calpains, domains IIa, IIb; calcium-dependent cytoplasmic cysteine proteinases, papain-like. Functions in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction.
      cd02681
      Location:576
      MIT_calpain7_1; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This sub-family of MIT domains is found in the nuclear thiol protease PalBH. The molecular function of the MIT domain is unclear.
      cl00299
      Location:85159
      MIT; MIT: domain contained within Microtubule Interacting and Trafficking molecules. The MIT domain is found in sorting nexins, the nuclear thiol protease PalBH, the AAA protein spastin and archaebacterial proteins with similar domain architecture, vacuolar ...
    2. XM_017006044.2XP_016861533.1  calpain-7 isoform X5

    3. XM_011533556.2XP_011531858.1  calpain-7 isoform X2

      Conserved Domains (3) summary
      smart00720
      Location:659782
      calpain_III; calpain_III domain
      cd00044
      Location:170510
      CysPc; Calpains, domains IIa, IIb; calcium-dependent cytoplasmic cysteine proteinases, papain-like. Functions in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction.
      cl00299
      Location:41115
      MIT; MIT: domain contained within Microtubule Interacting and Trafficking molecules. The MIT domain is found in sorting nexins, the nuclear thiol protease PalBH, the AAA protein spastin and archaebacterial proteins with similar domain architecture, vacuolar ...
    4. XM_017006043.1XP_016861532.1  calpain-7 isoform X3

    5. XM_017006045.2XP_016861534.1  calpain-7 isoform X6

    6. XM_011533555.3XP_011531857.1  calpain-7 isoform X1

      Conserved Domains (4) summary
      smart00720
      Location:703826
      calpain_III; calpain_III domain
      cd00044
      Location:214554
      CysPc; Calpains, domains IIa, IIb; calcium-dependent cytoplasmic cysteine proteinases, papain-like. Functions in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction.
      cd02681
      Location:576
      MIT_calpain7_1; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This sub-family of MIT domains is found in the nuclear thiol protease PalBH. The molecular function of the MIT domain is unclear.
      cl00299
      Location:85159
      MIT; MIT: domain contained within Microtubule Interacting and Trafficking molecules. The MIT domain is found in sorting nexins, the nuclear thiol protease PalBH, the AAA protein spastin and archaebacterial proteins with similar domain architecture, vacuolar ...

    RNA

    1. XR_940399.3 RNA Sequence

    2. XR_001740073.2 RNA Sequence

    3. XR_001740077.2 RNA Sequence

    4. XR_001740072.2 RNA Sequence

    5. XR_001740074.2 RNA Sequence

    6. XR_001740075.2 RNA Sequence

    7. XR_001740076.2 RNA Sequence

    8. XR_001740078.2 RNA Sequence

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