title: The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing.
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.
authors.affiliation: Department of Pathology, Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: Y
authors.initials: Y
authors.lastname: Yamamoto
authors.forename: J M
authors.initials: JM
authors.lastname: Huibregtse
authors.forename: P M
authors.initials: PM
authors.lastname: Howley
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D018076:DNA, Complementary; D006801:Humans; D008025:Ligases / Q000235:genetics*; D008969:Molecular Sequence Data; D012333:RNA, Messenger; D044767:Ubiquitin-Protein Ligases
chemical_list: D018076:DNA, Complementary; D012333:RNA, Messenger; C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases; D008025:Ligases