Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.P278H
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UBE3A

NM_130839.5:p.P278H

Associated Papers

UBE3A regulates the transcription of IRF, an antiviral immunity.

Furumai R et al.

Human Molecular Genetics, 2019

The Autism and Angelman Syndrome Protein Ube3A/E6AP: The Gene, E3 Ligase Ubiquitination Targets and Neurobiological Functions.

Khatri N et al.

Frontiers in Molecular Neuroscience, 2019

UBE3A-mediated p18/LAMTOR1 ubiquitination and degradation regulate mTORC1 activity and synaptic plasticity.

Sun J et al.

Elife, 2018

Angelman Syndrome Protein Ube3a Regulates Synaptic Growth and Endocytosis by Inhibiting BMP Signaling in Drosophila.

Li W et al.

Plos Genetics, 2016

UBE3A Regulates Synaptic Plasticity and Learning and Memory by Controlling SK2 Channel Endocytosis.

Sun J et al.

Cell Reports, 2015

Angelman syndrome-associated ubiquitin ligase UBE3A/E6AP mutants interfere with the proteolytic activity of the proteasome.

Tomaić V et al.

Cell Death & Disease, 2015

The E3 ubiquitin ligase UBE3A is an integral component of the molecular circadian clock through regulating the BMAL1 transcription factor.

Gossan NC et al.

Nucleic Acids Research, 2014

Impairment of TrkB-PSD-95 signaling in Angelman syndrome.

Cao C et al.

Plos Biology, 2013

Defective glucocorticoid hormone receptor signaling leads to increased stress and anxiety in a mouse model of Angelman syndrome.

Godavarthi SK et al.

Human Molecular Genetics, 2012

Drosophila Ube3a regulates monoamine synthesis by increasing GTP cyclohydrolase I activity via a non-ubiquitin ligase mechanism.

Ferdousy F et al.

Neurobiology of Disease, 2011

The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.

Greer PL et al.

Cell, 2010

Phosphorylation of activation function-1 regulates proteasome-dependent nuclear mobility and E6-associated protein ubiquitin ligase recruitment to the estrogen receptor beta.

Picard N et al.

Molecular Endocrinology (baltimore, Md.), 2008

HERC5, a HECT E3 ubiquitin ligase tightly regulated in LPS activated endothelial cells.

Kroismayr R et al.

Journal of Cell Science, 2004

Identification of a novel telomerase repressor that interacts with the human papillomavirus type-16 E6/E6-AP complex.

Gewin L et al.

Genes & Development, 2004

Identification of HHR23A as a substrate for E6-associated protein-mediated ubiquitination.

Kumar S et al.

The Journal of Biological Chemistry, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."