UBE3A - ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome)
Entrez Gene Name: ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome)
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.
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, proteolysis, ubiquitin-dependent protein catabolic process
Literature References
- 16189514Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M. Towards a proteome-scale map of the human protein-protein interaction network.Nature 2005 Oct 20;437(7062):1173-8
- 10558980Huang L, Kinnucan E, Wang G, Beaudenon S, Howley PM, Huibregtse JM, Pavletich NP. Structure of an E6AP-UbcH7 complex: insights into ubiquitination by the E2-E3 enzyme cascade.Science 1999 11 12;286(5443):1321-6
- 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 410 categorized literature findings and their references in IPA
