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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.

    Yamamoto Y, Huibregtse JM, Howley PM.

    Source

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

    Abstract

    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.

    PMID:
    9143503
    [PubMed - indexed for MEDLINE]

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