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Description for Protein COL17A1

collagen, type XVII, alpha 1
14 total interacting proteins; 9 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • COLL: Collagen triple helix repeat (20 copies)
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K07603
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    BPAG2; BP180; Alpha 1 type XVII collagen; KIAA0204 protein; BA16H23.2; Bullous pemphigoid antigen 2, 180kD; Collagen type XVII alpha 1, BP180
    Approved Symbol:
    COL17A1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 16
    Human (de-) phosphorylation sites: 16; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Epidermolysis bullosa, generalized atrophic benign(Pd);
  • Epidermolysis bullosa, junctional, Localisata variant(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 1
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 00223 Entrez Gene ID: 1308 OMIM ID: 113811 Swissprot Accession: Q9UMD9;