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FLASH GENE
Symbol COL17A1 contributors: mct - updated : 13-03-2007
HGNC name collagen, type XVII, alpha 1
HGNC id 2194
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivepharynx   highly
Nervousbrain    
Respiratoryrespiratory tractlarynx  highly
Skin/Tegumentskin    
Urinarybladder   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Epithelialbarrier/lining   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron
Skin/Tegumentkeratinocyte
cell lineage
cell lines
fluid/secretion
at STAGE
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