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Description for Protein TGFBI

transforming growth factor, beta-induced, 68kDa
9 total interacting proteins; 5 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 1)
Summary:
This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion. Mutations in this gene are associated with multiple types of corneal dystrophy. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Transforming growth factor beta induced protein IG-H3; Transforming growth factor, beta induced, 68-KD; Beta-IG-H3; BIGH3 keratoepithelin; RGD containing collagen associated protein; RGD-CAP; Keratoepithelin
    Approved Symbol:
    TGFBI
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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:

  • Corneal dystrophy, Avellino type(Pd);
  • Corneal dystrophy, epithelial basement membrane(Pd);
  • Corneal dystrophy, Groenouw type I(Pd);
  • Corneal dystrophy, lattice type I(Pd);
  • Corneal dystrophy, lattice type IIIA(Pd);
  • Corneal dystrophy, Reis-Bucklers type(Pd);
  • Corneal dystrophy, Thiel-Behnke type(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 03409 Entrez Gene ID: 7045 OMIM ID: 601692 Swissprot Accession: Q15582;