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FLASH GENE
Symbol COL12A1 contributors: mct/np - updated : 17-06-2012
HGNC name collagen, type XII, alpha 1
HGNC id 2188
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • fibril associated collagen with interrupted triple helices (FACIT)
  • four von Willebrand A-like modules
  • 18 FBN type III repeats
  • one NC4 collagen homology domain
  • two triple helical domains
    • conjugated GlycoP
    mono polymer homomer , trimer
    HOMOLOGY
    Homologene
    FAMILY collagen family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix
    basic FUNCTION
  • maintaining the integrity of ECM containing COLI fibers
  • may be involved in basement membrane regulation providing specific molecular bridges between fibrils and other matrix components (Thierry 2004)
  • with COL14A1, might well be able to serve different functions during human embryonic development although their structures are highly similar (Thierry 2004)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text skeletal development
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of fibril associated collagen with interrupted triple helices (FACIT)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • COLI fibers
  • COMP binds to COL12A1 and COL14A1 via their C-terminal collagenous domains, and three proteins codistribute in a characteristic narrow zone in the superficial papillary dermis of healthy human skin
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL6Q1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS