UBE3A, Official Symbol UBE3Aprovided by HGNC Official Full Name ubiquitin protein ligase E3Aprovided by HGNC Primary source HGNC:HGNC:12496 See related Ensembl:ENSG00000114062 MIM:601623; AllianceGenome:HGNC:12496 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AS; ANCR; PIX1; E6-AP; HPVE6A; EPVE6AP 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, Jul 2008] Expression Ubiquitous expression in testis (RPKM 14.2), thyroid (RPKM 14.2) and 25 other tissues See more Orthologs mouse all