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FLASH GENE
Symbol COL3A1 contributors: mct - updated : 07-06-2011
HGNC name collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
HGNC id 2201
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Hearing/Equilibriumearinnercochlea  
Nervousnerve    
Respiratorylung    
Skin/Tegumentskin    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
Connectiveinterstitialdermis  
cells
SystemCellPubmedSpeciesStageRna symbol
 fibroblast
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal
Text cochlea, embryonic tissue
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • fibrillar collagen with a large triple helical domain
  • two N and C globular domains
  • a von Willebrand factor (vWF) type C domain
    • conjugated GlycoP
    mono polymer homomer , trimer
    isoforms Precursor procollagen
    HOMOLOGY
    interspecies ortholog to murine Col3a1
    Homologene
    FAMILY
  • fibrillar collagen family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix structural constituent
    basic FUNCTION
  • fibrillar collagen of extensible tissues
  • is essential for normal collagen I fibrillogenesis in the cardiovascular system and other organs
  • regulates the proper lamination of the cerebral cortex by acting as the major ligand of GPR56 in the developing brain
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cardiovascular , development
    text histogenesis, organogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • COL3A1 is the ligand of GPR56
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ACRG , EDS3 , EDS4A , FAN
    related resource Collagen Type I & III
    Susceptibility to pelvic organ prolapse (POP)
    Variant & Polymorphism other
  • older age and incidence of COL3A1 rs1800255 genotype AA were significantly associated with risk of POP (
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS