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FLASH GENE
Symbol CAPN3 contributors: mct - updated : 11-04-2014
HGNC name calpain 3, (p94)
HGNC id 1480
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal regulatory domain processed after activation (I)
  • a cysteine protease domain (II)
  • a linker domain (III)
  • specific IS2 segment between domains III and IV, important functional site that may regulate the transient activation and limited proteolysis of CAPN3
  • a calcium binding domain with four calmodulin-like EF hand motifs (IV)
  • two nuclear localization signals (NLS)
    • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies ortholog to rattus capn3
    ortholog to murine Capn3
    Homologene
    FAMILY
  • papain superfamily
  • calpain cysteine protease (C2) family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text localized in the N2 region of myofibrils
    basic FUNCTION
  • calcium dependent neutral cysteine proteinase (non lysosomal)
  • possessing a proteolytic activity against a potential substrate
  • involved in cytoskeleton remodeling
  • participating in sarcomere remodeling by acting upstream of the ubiquitin-proteasome pathway
  • playing a physiological role in regulating the dysferlin protein complex
  • is a critical but unstable enigmatic skeletal muscle protease
  • has many attributes that make it ideally suited as a sensor of sarcomeric integrity and function, involved in its repair and maintenance
  • is uniquely activated during lens fiber differentiation
  • is an intracellular Na+-dependent protease, and Na+ regulate contribution of CAPN3 as a structural component in muscle cells
  • is needed for the regenerative process probably during sarcomere remodeling
  • having different cellular functions depending on the subcellular compartment in which it is located
  • localizes to triads, where it plays an important role as a structural component and not as a protease
    • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development
    text cytoskeletal remodeling
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • heterodimerizing with a small subunit
    • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
    • protein
  • dysferlin, DYSF
  • interacting with TTN
  • inhibition of NACA gene expression leads to enhanced, and overexpression of NACA gene to repressed, activity of CAPN1 and, to a lesser extent, CAPN3 in myoblasts
  • SIMC1 is a CAPN3-binding protein, and suppresses the protease activity of CAPN3
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LGMD2A
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    reduced expression associated with increased in body fat, obesity and insulin resistance
    Susceptibility to idiopathic eosinophilic myositis
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Capn3-deficient muscle in mice
  • Rbfox1 downregulation and altered Capn3 splicing by Frg1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD)