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.

Mar 30, 2025 · UBE3A (Ubiquitin Protein Ligase E3A) is a Protein Coding gene. Diseases associated with UBE3A include Angelman Syndrome and Alternating Hemiplegia Of Childhood 2. Among its related pathways are Class I MHC mediated antigen processing and presentation and MIF Mediated Glucocorticoid Regulation.

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 …

Dec 13, 2024 · 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.

Jul 8, 2024 · 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...

Here, we will first review what is known about UBE3A function and regulation, discuss the complex epigenetic mechanisms regulating UBE3A in neurons, and discuss the phenotypes and experimental models for both AS (UBE3A deficiency) and Dup15q syndrome (UBE3A excess).

Mar 4, 2025 · 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.

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

Jun 24, 2019 · 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...