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FLASH GENE
Symbol COL6A3 contributors: mct - updated : 25-04-2013
HGNC name collagen, type VI, alpha 3
HGNC id 2213
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • nine von Willebrand vWF factor A domains within the N terminal portion
  • a central triple helical domain (TH) flanked by large N- and C-terminal globular domains (N1–10 and C1–C5)
  • three unrelated protein motifs at the C terminal end
  • two vWF domains
  • a proline rich repetitive segment
  • alpha chain has much larger N- and C-globular domains than the other two chains
  • a fibronectin type III repeat-like
  • one Kunitz-type (38AA motif containing three intrachain disulfide bonds) domains
    • conjugated GlycoP
    mono polymer heteromer , trimer
    HOMOLOGY
    Homologene
    FAMILY
  • type VI collagen family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    text extracellular matrix
    basic FUNCTION
  • maintenance of extracellular matrix
  • critical role in maintaining skeletal muscle functional integrity
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • major component of microfibrils
  • forming a trimer with COL6A1 and COL6A2 associated with furin
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TBP subunit TAF4 is essential to restrain the growth promoting properties of COL6A3
    • cell & other
    REGULATION
    Other putative downregulated c-Myc target gene
    ASSOCIATED DISORDERS
    corresponding disease(s) BTHM2 , UCMD2 , DYT27
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mutant mice are deficient in extracellular collagen VI microfibrils and exhibit myopathic features including decreased muscle mass and contractile force