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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]
MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000502 [proteasome complex] GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006508 [proteolysis] GO:0006511 [ubiquitin-dependent protein catabolic process] GO:0007420 [brain development] GO:0016032 [viral process] GO:0016874 [ligase activity] GO:0031398 [positive regulation of protein ubiquitination] GO:0042752 [regulation of circadian rhythm] GO:0046872 [metal ion binding] GO:0048511 [rhythmic process] GO:0051865 [protein autoubiquitination] GO:0061630 [ubiquitin protein ligase activity] GO:0070936 [protein K48-linked ubiquitination] GO:2000058 [regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process]
MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000502 [proteasome complex] GO:0001541 [ovarian follicle development] GO:0003713 [transcription coactivator activity] GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0006508 [proteolysis] GO:0006511 [ubiquitin-dependent protein catabolic process] GO:0007420 [brain development] GO:0014068 [positive regulation of phosphatidylinositol 3-kinase signaling] GO:0016032 [viral process] GO:0016567 [protein ubiquitination] GO:0016874 [ligase activity] GO:0030521 [androgen receptor signaling pathway] GO:0031398 [positive regulation of protein ubiquitination] GO:0035037 [sperm entry] GO:0042752 [regulation of circadian rhythm] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046872 [metal ion binding] GO:0048511 [rhythmic process] GO:0051865 [protein autoubiquitination] GO:0060736 [prostate gland growth] GO:0061630 [ubiquitin protein ligase activity] GO:0070936 [protein K48-linked ubiquitination] GO:2000058 [regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process]
MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000502 [proteasome complex] GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006508 [proteolysis] GO:0006511 [ubiquitin-dependent protein catabolic process] GO:0007420 [brain development] GO:0016032 [viral process] GO:0016874 [ligase activity] GO:0031398 [positive regulation of protein ubiquitination] GO:0042752 [regulation of circadian rhythm] GO:0046872 [metal ion binding] GO:0048511 [rhythmic process] GO:0051865 [protein autoubiquitination] GO:0061630 [ubiquitin protein ligase activity] GO:0070936 [protein K48-linked ubiquitination] GO:2000058 [regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process]