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FLASH GENE
Symbol COL17A1 contributors: mct - updated : 13-03-2007
HGNC name collagen, type XVII, alpha 1
HGNC id 2194
Corresponding disease
EBJ2E epidermolysis bullosa junctional, non-Herlitz type
Location 10q24.3      Physical location : 105.791.047 - 105.845.638
Synonym name
  • bullous pemphigoid antigen 2
  • collagen alpha-1
    • Synonym symbol(s) BPAG2, BP180, LAD-1, BA16H23.2
    DNA
    TYPE functioning gene
    STRUCTURE 54.00 kb     57 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text six different 5'UTRs for the type XVII collagen mRNA
    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