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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
    Physical map
    ARL3 10q24.1 ADP-ribosylation factor-like 3 SFXN2 10q24.32 sideroflexin 2 C10orf26 10q24.33 chromosome 10 open reading frame 26 CYP17A1 10q24.3 cytochrome P450, family 17, subfamily A, polypeptide 1 LOC390000 10 similar to Tebp-pending-prov protein C10orf32 10q24.33 chromosome 10 open reading frame 32 CYT19 10q24.33 Cyt19 protein CNNM2 10q24.32 cyclin M2 NT5C2 10q24.32 5'-nucleotidase, cytosolic II LOC90470 10q24.33 similar to Ribulose-phosphate 3-epimerase (Ribulose-5-phosphate-3-epimerase) (HUSSY-17) INA 10q24.33 internexin neuronal intermediate filament protein, alpha RNF134 10q24.33 ring finger protein 134 TAF5 10q24 TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa MGC14697 10q24.33 upregulated during skeletal muscle growth 5 LOC51063 10pter-q26.12 hypothetical protein LOC51063 LOC119395 10q24.33 hypothetical protein LOC119395 NEURL 10q25.1 neuralized-like (Drosophila) SH3MD1 10q24.33 SH3 multiple domains 1 FLJ22559 10q25.1 hypothetical protein FLJ22559 SLK 10q24.1-q25.2 SNF1 sucrose nonfermenting like kinase (yeast) COL17A1 10q24.3 collagen, type XVII, alpha 1 LOC119392 10q25.1 LOC119392 FLJ22944 10q25.1 hypothetical protein FLJ22944 GSTO1 10q24.33 glutathione S-transferase omega 1 GSTO2 10q25.1 glutathione S-transferase omega 2 KIAA1754 10q25.1 KIAA1754 protein LOC387710 10 LOC387710 FLJ35908 10q25.1 hypothetical protein FLJ35908 SORCS3 10q22-q26 hypothetical protein FLJ35908
    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