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Ubiquitin protein ligase E3A
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] (from
Trivedi et al., Lucknow, India. In Proteomics, 2012
Applied 2DE and MS based proteomics approach to identify target proteins of Tam. Show that Tam leads to inhibition of E6AP expression presumably by autoubiquitination, which leads to enhanced G0-G1 growth arrest and apoptosis.