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

Genomics. 1997 Apr 15;41(2):263-6. doi: 10.1006/geno.1997.4617.

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alternative Splicing*
  • Amino Acid Sequence
  • Base Sequence
  • DNA, Complementary
  • Humans
  • Ligases / genetics*
  • Molecular Sequence Data
  • RNA, Messenger
  • Ubiquitin-Protein Ligases

Substances

  • DNA, Complementary
  • RNA, Messenger
  • UBE3A protein, human
  • Ubiquitin-Protein Ligases
  • Ligases

Associated data

  • GENBANK/X98021
  • GENBANK/X98022
  • GENBANK/X98023
  • GENBANK/X98024
  • GENBANK/X98025
  • GENBANK/X98026
  • GENBANK/X98027
  • GENBANK/X98028
  • GENBANK/X98029
  • GENBANK/X98030
  • GENBANK/X98031
  • GENBANK/X98032
  • GENBANK/X98033
  • GENBANK/X98034
  • GENBANK/X98035
  • GENBANK/X98036
  • GENBANK/X98037