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FLASH GENE
Symbol COL6A3 contributors: mct - updated : 25-04-2013
HGNC name collagen, type VI, alpha 3
HGNC id 2213
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
44 - 10599 343 3177 - 2006 16613849
44 - 10061 - 1036 - 2006 16613849
43 - 4088 - 1237 - 2006 16613849
43 - 8778 - 2570 - 2006 16613849
43 - 9981 321 2971 - 2006 16613849
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvessels    
Nervousbrain     Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscular    
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
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 (N110 and C1C5)
  • 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