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FLASH GENE
Symbol COL17A1 contributors: mct - updated : 13-03-2007
HGNC name collagen, type XVII, alpha 1
HGNC id 2194
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an extracellular domain containing 15 separate collagenous subdomains,
  • a non-collagenous linker domain, NC16A, involved in protein assembly and stability
  • a N terminal globular, intracellular domain
  • collagen triple helix repeat
    • conjugated GlycoP
    mono polymer homomer , trimer
    HOMOLOGY
    interspecies ortholog to murine Col17a1
    Homologene
    FAMILY collagen family
    CATEGORY adhesion , structural protein , antigen
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,desmosome
    text
  • hemidesmosomes
  • type II membrane protein
    • basic FUNCTION
  • mediating adhesion of keratinocytes to the underlying membrane
    • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS
    text epidermal differentiation
    PATHWAY
    metabolism
    signaling
    a component
  • existing in keratinocytes as a homotrimer, also as a soluble ectodomain of three 120kDa polypeptides
  • constituent of the epidermal anchoring complex
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with DST (may help to anchor elements of the rod photoreceptor cytomatrix to the extracellular matrix)
  • ITGA2B
    • cell & other
    REGULATION
    Other degradated in 97kDa linear Iga bullous dermatosis antigen (LAD1) by TACE, ADAM9 or ADAM10
    ASSOCIATED DISORDERS
    corresponding disease(s) EBJ2E
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS