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Description for Protein UBE3A

ubiquitin protein ligase E3A
31 total interacting proteins; 12 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    6.3.2.19
    KEGG - Orthology:
    K10587
    KEGG - Pathway(s):
    hsa04120
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Ubiquitin protein ligase E3A isoform 2; Ubiquitin protein ligase E3A isoform 3; Ubiquitin protein ligase E3A isoform 1; Human papillomavirus E6 associated protein; E6AP; Oncogenic protein associated protein E6-AP
    Approved Symbol:
    UBE3A
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 9
    Human (de-) phosphorylation sites: 9; 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:

  • Angelman syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03375 Entrez Gene ID: 7337 OMIM ID: 601623 Swissprot Accession: Q9BUI6; Q05086; Q9H2G0;