Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
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