Literature DB >> 9143503

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

Y Yamamoto1, J M Huibregtse, P M Howley.   

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.

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Year:  1997        PMID： 9143503     DOI： 10.1006/geno.1997.4617

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  46 in total

1.  Human proteome-scale structural modeling of E2-E3 interactions exploiting interface motifs.

Authors:  Gozde Kar; Ozlem Keskin; Ruth Nussinov; Attila Gursoy
Journal:  J Proteome Res       Date:  2012-01-10       Impact factor: 4.466

2.  Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome.

Authors:  Richard M Gustin; Terry Jo Bichell; Michael Bubser; Jennifer Daily; Irina Filonova; Davit Mrelashvili; Ariel Y Deutch; Roger J Colbran; Edwin J Weeber; Kevin F Haas
Journal:  Neurobiol Dis       Date:  2010-04-25       Impact factor: 5.996

3.  Identification and proteomic analysis of distinct UBE3A/E6AP protein complexes.

Authors:  Gustavo Martínez-Noël; Jeffrey T Galligan; Mathew E Sowa; Verena Arndt; Thomas M Overton; J Wade Harper; Peter M Howley
Journal:  Mol Cell Biol       Date:  2012-05-29       Impact factor: 4.272

4.  The elusive Angelman syndrome critical region.

Authors:  R J Trent; L J Sheffield; Z M Deng; W S Kim; N T Nassif; C Ryce; C G Woods; R C Michaelis; J Tarleton; A Smith
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

5.  Mutation analysis of UBE3A in Angelman syndrome patients.

Authors:  P Malzac; H Webber; A Moncla; J M Graham; M Kukolich; C Williams; R A Pagon; L A Ramsdell; T Kishino; J Wagstaff
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

6.  Physical and functional interaction of the HECT ubiquitin-protein ligases E6AP and HERC2.

Authors:  Simone Kühnle; Ulrike Kogel; Sandra Glockzin; Andreas Marquardt; Aaron Ciechanover; Konstantin Matentzoglu; Martin Scheffner
Journal:  J Biol Chem       Date:  2011-04-14       Impact factor: 5.157

7.  A coding-independent function of an alternative Ube3a transcript during neuronal development.

Authors:  Jeremy Valluy; Silvia Bicker; Ayla Aksoy-Aksel; Martin Lackinger; Simon Sumer; Roberto Fiore; Tatjana Wüst; Dominik Seffer; Franziska Metge; Christoph Dieterich; Markus Wöhr; Rainer Schwarting; Gerhard Schratt
Journal:  Nat Neurosci       Date:  2015-04-13       Impact factor: 24.884

8.  E6AP in the brain: one protein, dual function, multiple diseases.

Authors:  Jimmy El Hokayem; Zafar Nawaz
Journal:  Mol Neurobiol       Date:  2013-10-05       Impact factor: 5.590

9.  Abundance and localization of human UBE3A protein isoforms.

Authors:  Carissa L Sirois; Judy E Bloom; James J Fink; Dea Gorka; Steffen Keller; Noelle D Germain; Eric S Levine; Stormy J Chamberlain
Journal:  Hum Mol Genet       Date:  2020-11-04       Impact factor: 6.150

10.  Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation.

Authors:  T Ohta; K Buiting; H Kokkonen; S McCandless; S Heeger; H Leisti; D J Driscoll; S B Cassidy; B Horsthemke; R D Nicholls
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025
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