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Genomics. 1997 Apr 15;41(2):263-6.

The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing.

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  • 1Department of Pathology, Harvard Medical School, Boston, Massachusetts 02115, USA.


The E6-AP gene (UBE3A) encodes an E3 ubiquitin-protein ligase that binds the human papillomavirus E6 oncoprotein and catalyzes the ubiquitination of p53. Recent studies have also established that mutations in E6-AP are the genetic basis of the Angelman syndrome in humans. In this study we present the genomic structure of the coding region of E6-AP and an analysis of a set of five E6-AP mRNAs with the potential to encode three protein isoforms of the E6-AP protein (isoforms I, II, and III) that differ at their extreme amino-termini. These transcripts were expressed in a variety of different cell lines examined.

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