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Description for Protein COL7A1

collagen, type VII, alpha 1
14 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • VWA: von Willebrand factor (vWF) type A domain
  • COLL: Collagen triple helix repeat (20 copies)
  • FN3: Fibronectin type 3 domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Long chain collagen; LC collagen
    Approved Symbol:
    COL7A1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 4
    Human (de-) phosphorylation sites: 4; 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 dystrophica with subcorneal cleavage(Pd);
  • Epidermolysis bullosa dystrophica, autosomal recessive(Pd);
  • Epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant(Pd);
  • Epidermolysis bullosa dystrophica, Bart type(Pd);
  • Epidermolysis bullosa dystrophica, dominant(Pd);
  • Epidermolysis bullosa pruriginosa, autosomal dominant(Pd);
  • Epidermolysis bullosa pruriginosa, autosomal recessive(Pd);
  • Epidermolysis bullosa, pretibial(Pd);
  • Epidermolysis bullosa, pretibial, autosomal recessive(Pd);
  • Toenail dystrophy, isolated(Pd);
  • Transient bullous dermolysis of the newborn(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00358 Entrez Gene ID: 1294 OMIM ID: 120120 Swissprot Accession: Q02388; Q59F16;