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Description for Protein TP63

tumor protein p63
46 total interacting proteins; 11 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a member of the p53 family of transcription factors. An animal model, p63 -/- mice, has been useful in defining the role this protein plays in the development and maintenance of stratified epithelial tissues. p63 -/- mice have several developmental defects which include the lack of limbs and other tissues, such as teeth and mammary glands, which develop as a result of interactions between mesenchyme and epithelium. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. Both alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different proteins. Many transcripts encoding different proteins have been reported but the biological validity and the full-length nature of these variants have not been determined. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SAM: Sterile alpha motif.
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K10149
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    p53-related protein p63; p63; KET; Tumor protein p73-like; TP63
    Approved Symbol:
    TP63
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 19
    Human (de-) phosphorylation sites: 19; 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:

  • Adult syndrome(Pd);
  • Ankyloblepharon-ectodermal defects-cleft lip/palate(Pd);
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3(Pd);
  • Limb-mammary syndrome(Pd);
  • Orofacial cleft 8(Pd);
  • Rapp-Hodgkin syndrome(Pd);
  • Split-hand/foot malformation 4(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 6 : 0
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 04469 Entrez Gene ID: 8626 OMIM ID: 603273 Swissprot Accession: Q9H3D4;