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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
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