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FLASH GENE
Symbol COL7A1 contributors: mct - updated : 10-02-2010
HGNC name collagen, type VII, alpha 1
HGNC id 2214
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal von Willebrand factor type A domain
  • fibronectin type III domain
  • a second von Willebrand factor type A domain
  • a long collagen domain
  • a Kunitz trypsin inhibitor domain
    • conjugated GlycoP
    mono polymer homomer , trimer
    HOMOLOGY
    interspecies ortholog to murine Col7a1 (84 pc)
    Homologene
    FAMILY
  • collagen family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix
    basic FUNCTION
  • anchoring fibril between stratified epithelium and underlying dermis
    • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS
    text epidermis differentiation
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EBDD , EBDDN , EBDR , EBDRO , EBSS , EBDPR
    Susceptibility to squamous cell carcinoma
    Variant & Polymorphism other
  • retention of a specific collagen VII fragment (the N-terminal noncollagenous domain NC1) in a subset of RDEB patients may contribute to their increased susceptibility to squamous cell carcinoma
    • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    dermatologyskin 
    molecular strategy for counteracting dominant-negative interference of glycine substitution mutations by shifting the balance between WT and mutant alpha-chains forming the collagen triple helix
    ANIMAL & CELL MODELS