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Description for Protein CAPN3

calpain 3, (p94)
6 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CALPAIN_III: Rad18-like CCHC zinc finger
  • CYSPC: Calpain-like thiol protease family.
  • EF: EF-hand, calcium binding motif
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.4.22.54
    KEGG - Orthology:
    K08573
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Calcium-activated neutral proteinase 3; NCL1; Calpain p94; Calpain L3; Calpain 3 isoform e; Calpain 3 isoform b; Calpain 3 isoform c; Calpain 3 isoform d; Calpain 3 isoform f; Calpain 3 isoform g; Calpain 3 isoform h; Calpain 3 isoform a; Calpain, large polypeptide L3; Calpain p94, large [catalytic] subunit; Muscle specific calcium activated neutral protease 3 large subunit; p94; CANP3; EC 3.4.22.17; LGMD2; nCL-1; CANPL3; LGMD2A; MGC4403; MGC10767; MGC11121; MGC14344
    Approved Symbol:
    CAPN3
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 9
    Human (de-) phosphorylation sites: 9; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Muscular dystrophy, limb-girdle, type 2A(Pd);
  • Muscular dystrophy, limb-girdle, type 2A, Amish(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 9 : 0
  • Isoform 8 : 0
  • Isoform 7 : 0
  • Isoform 6 : 0
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00255 Entrez Gene ID: 825 OMIM ID: 114240 Swissprot Accession: P20807; Q762C8; Q9BQC8;