Products

Western Blot (Recombinant protein)

ELISA

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

UBE3A

Gene Alias

ANCR, AS, E6-AP, EPVE6AP, FLJ26981, HPVE6A

Gene Description

ubiquitin protein ligase E3A

Omim ID

Gene Ontology

Gene 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

Other Designations

CTCL tumor antigen se37-2|human papilloma virus E6-associated protein|oncogenic protein-associated protein E6-AP