Ubiquitin protein ligase E3A attaches a small marker protein called ubiquitin to proteins that should be degraded. Cellular structures called proteasomes recognize and digest proteins tagged with ubiquitin. Both copies of the UBE3A gene are active in most of the body's tissues.

The UBE3A gene provides instructions for making a protein called ubiquitin protein ligase E3A. Ubiquitin protein ligases are enzymes that target other proteins to be broken down (degraded) within cells.

2024年12月25日 · UBE3A (Ubiquitin Protein Ligase E3A) is a Protein Coding gene. Diseases associated with UBE3A include Angelman Syndrome and Rett Syndrome. Among its related pathways are Class I MHC mediated antigen processing and presentation and MIF Mediated Glucocorticoid Regulation.

2024年7月8日 · Deletion of the maternal UBE3A allele causes Angelman syndrome (AS); because paternal UBE3A is epigenetically silenced by a long non-coding antisense (UBE3A-ATS) in neurons, this nearly...

2024年12月13日 · In particular, Angelman syndrome and one of the most common genomic forms of autism, dup15q, are caused respectively by lack of or excess of UBE3A, a ubiquitin E3 ligase. Its Drosophila orthologue, Ube3a, is also active during brain development. We have now devised a protocol to screen for substrates of this particular ubiquitin ligase.

UBE3A is an E3 ubiquitin ligase that targets proteins for proteasomal degradation. The UBE3A gene resides within the human 15q11.2-q13.3 locus that is parentally imprinted in neurons (Figure 1A) leading to the non-Mendelian inheritance patterns of …

2025年3月4日 · Title: Ubiquitin-protein ligase E3A (UBE3A) mediation of viral infection and human diseases. The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons.

2021年11月23日 · We identify numerous gain-of-function variants including a hyperactivating Q588E mutation that strikingly increases UBE3A activity above wild-type UBE3A levels.

2012年8月23日 · Clinical resource with information about UBE3A, Angelman syndrome, Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality., Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population., and available tests.

2019年6月24日 · Mutations affecting the gene encoding the ubiquitin ligase UBE3A cause Angelman syndrome. Although most studies focus on the synaptic function of UBE3A, we show that UBE3A is highly enriched...