UBE3A - ubiquitin protein ligase E3A
Entrez Gene Name: ubiquitin protein ligase E3A
Entrez GeneID: Human(7337)
, Mouse(22215), Rat(361585)
, Mouse(22215), Rat(361585) Synonyms: 4732496B02, 5830462N02RIK, A130086L21RIK, ANCR, AS, E6-AP, EPVE6AP, FLJ26981, HPVE6A, KIAA4216, mKIAA4216, SE37-2, UBE3A, Ube3a predicted
Gene Summary
- Human (7337): 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]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Biological Process
brain development, interspecies interaction between organisms, protein modification process, protein ubiquitination, proteolysis, ubiquitin-dependent protein catabolic process
Literature References
- 15502875John B, Enright AJ, Aravin A, Tuschl T, Sander C, Marks DS. Human MicroRNA targets.PLoS Biol 2004 11 1;2(11):e363
- 16713569Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.Cell 2006 May 19;125(4):801-14
- 16314411Li L, Li Z, Howley PM, Sacks DB. E6AP and Calmodulin Reciprocally Regulate Estrogen Receptor Stability.J Biol Chem 2006 Jan 27;281(4):1978-85 View 463 categorized literature findings and their references in IPA
Molecular Functions
acid-amino acid ligase activity, ligase activity, protein binding, ubiquitin-protein ligase activity
