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Ubiquitin protein ligase E3A

This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Ubiquitin, CAN, p53, HAD, ACID
Papers using UBE3A antibodies
TBL1 and TBLR1 phosphorylation on regulated gene promoters overcomes dual CtBP and NCoR/SMRT transcriptional repression checkpoints.
Xu Aimin, In PLoS ONE, 2007
... The rabbit polyclonal E6-AP antibody (A300–352A) was from Bethyl Laboratories ...
Papers on UBE3A
Structure of the E6/E6AP/p53 complex required for HPV-mediated degradation of p53.
Zanier et al., Illkirch-Graffenstaden, France. In Nature, Feb 2016
In this process, E6 binds to a short leucine (L)-rich LxxLL consensus sequence within the cellular ubiquitin ligase E6AP.
Pharmacological therapies for Angelman syndrome.
Bird et al., Boston, United States. In Wien Med Wochenschr, Feb 2016
UNASSIGNED: Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by a loss of the maternally inherited UBE3A; the paternal UBE3A is silenced in neurons by a mechanism involving an antisense transcript (UBE3A-AS).
Protein Delivery of an Artificial Transcription Factor Restores Widespread Ube3a Expression in an Angelman Syndrome Mouse Brain.
Segal et al., Davis, United States. In Mol Ther, Feb 2016
UNASSIGNED: Angelman Syndrome is a neurological genetic disorder caused by loss of expression of the maternal copy of UBE3A in the brain.
Mitochondrial Superoxide Contributes to Hippocampal Synaptic Dysfunction and Memory Deficits in Angelman Syndrome Model Mice.
Kaphzan et al., Haifa, Israel. In J Neurosci, Jan 2016
In the majority of the patients, AS is caused by the deletion of small portions of maternal chromosome 15 harboring the UBE3A gene.
Breast cancer cells: Modulation by melatonin and the ubiquitin-proteasome system - A review.
Reiter et al., Winnipeg, Canada. In Mol Cell Endocrinol, Jan 2016
The fact that the first breast cancer susceptibility gene to be identified, Brca1, functions as a ubiquitin ligase indicates that the ubiquitin-proteasome system has a role in regulating susceptibility to breast cancer.
Gene-targeting pharmaceuticals for single gene disorders.
Meng et al., Houston, United States. In Hum Mol Genet, Dec 2015
Work is progressing on the use of ASOs to activate the normally silent paternal copy of the imprinted UBE3A gene in neurons as a treatment for Angelman syndrome.
Potential therapeutic approaches for Angelman syndrome.
Baudry et al., Pomona, United States. In Expert Opin Ther Targets, Dec 2015
INTRODUCTION: Angelman syndrome (AS) is a neurodevelopmental disorder caused by deficiency of maternally inherited UBE3A, an ubiquitin E3 ligase.
Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy.
Spalice et al., Roma, Italy. In J Neurogenet, Dec 2015
MSNE has been reported in Angelman syndrome (AS) secondary to 15q11-13 deletions or UBE3A mutations but not to paternal uniparental disomy (UPD).
Angelman Syndrome: A Review Highlighting Musculoskeletal and Anatomical Aberrations.
Kim et al., Saskatoon, Canada. In Clin Anat, Nov 2015
UNASSIGNED: Angelman's syndrome (AS) is a genetic neurodevelopment disorder.
Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders.
Chamberlain et al., Davis, United States. In Epigenomics, Oct 2015
The E3 ubiquitin ligase UBE3A, also known as E6-AP, has a multitude of ascribed functions and targets relevant to human health and disease.
An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A.
Zylka et al., Chapel Hill, United States. In Cell, Sep 2015
Deletion of UBE3A causes the neurodevelopmental disorder Angelman syndrome (AS), while duplication or triplication of UBE3A is linked to autism.
Towards a therapy for Angelman syndrome by targeting a long non-coding RNA.
Rigo et al., Houston, United States. In Nature, Mar 2015
It is caused by maternal deficiency of the imprinted gene UBE3A, encoding an E3 ubiquitin ligase.
From UBE3A to Angelman syndrome: a substrate perspective.
Margolis et al., Baltimore, United States. In Front Neurosci, 2014
AS patients commonly carry mutations that render the maternally inherited UBE3A gene non-functional.
Structural basis for hijacking of cellular LxxLL motifs by papillomavirus E6 oncoproteins.
Travé et al., Illkirch-Graffenstaden, France. In Science, 2013
We solved the crystal structures of bovine (BPV1) and human (HPV16) papillomavirus E6 proteins bound to LxxLL peptides from the focal adhesion protein paxillin and the ubiquitin ligase E6AP, respectively.
Dysfunction of the ubiquitin ligase Ube3a may be associated with synaptic pathophysiology in a mouse model of Huntington disease.
Jana et al., Gurgaon, India. In J Biol Chem, 2012
the loss of function of Ube3a might be associated with the synaptic abnormalities observed in HD.
Identification and proteomic analysis of distinct UBE3A/E6AP protein complexes.
Howley et al., Boston, United States. In Mol Cell Biol, 2012
proteomic studies reveal a level of complexity for E6AP that has not been previously appreciated and identify a number of new cellular proteins through which E6AP may be regulated or functioning
E6AP ubiquitin ligase regulates PML-induced senescence in Myc-driven lymphomagenesis.
Haupt et al., Melbourne, Australia. In Blood, 2012
E6AP expression is elevated in Burkitt lymphomas.
Maternal loss of Ube3a produces an excitatory/inhibitory imbalance through neuron type-specific synaptic defects.
Philpot et al., Chapel Hill, United States. In Neuron, 2012
This study demonistrated that Ube3a deficices mice product produces an excitatory/inhibitory imbalance through neuron type-specific synaptic in visual cortex.
Proteomic identification of E6AP as a molecular target of tamoxifen in MCF7 cells.
Trivedi et al., Lucknow, India. In Proteomics, 2012
Applied 2DE and MS based proteomics approach to identify target proteins of Tam. Show that Tam leads to inhibition of E6AP expression presumably by autoubiquitination, which leads to enhanced G0-G1 growth arrest and apoptosis.
Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons.
Philpot et al., Chapel Hill, United States. In Nature, 2012
Angelman syndrome is a severe neurodevelopmental disorder caused by deletion or mutation of the maternal allele of the ubiquitin protein ligase E3A (UBE3A).
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