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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
Corresponding disease
ACRG acrogeria, Gottron type
EDS3 Ehlers-Danlos syndrome, type III
EDS4A Ehlers-Danlos syndrome, type IV
FAN arterial aneurysms, familial
Location 2q32.2      Physical location : 189.839.098 - 189.877.472
Synonym name
  • collagen alpha-1(III) chain
  • collagen, fetal
    • Synonym symbol(s) FLJ34534, EDS4A
    DNA
    TYPE functioning gene
    STRUCTURE 38.37 kb     51 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map cen - (D2S32 - D2S138 - D2S148 ) - (D2S24 - COL5A2 - COL3A1 - D2S118 - D2S161 ) - qter
    Authors Tiller (94)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    51 - 5490 138 1466 - 2004 14970208
    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