Ubiquitin-like modifier activating enzyme 1 (UBA1) is an enzyme which in humans is encoded by the UBA1 gene. [5] [6] UBA1 participates in ubiquitination and the NEDD8 pathway for protein …

Detection of UBA1 mutation is critical for diagnosing VEXAS syndrome. This droplet digital polymerase chain reaction assay offers improved analytical sensitivity over other commonly …

Oct 27, 2020 · We identified 25 men with somatic mutations affecting methionine-41 (p.Met41) in UBA1, the major E1 enzyme that initiates ubiquitylation. (The gene UBA1 lies on the X …

Mar 30, 2025 · UBA1 (Ubiquitin Like Modifier Activating Enzyme 1) is a Protein Coding gene. Diseases associated with UBA1 include Vexas Syndrome and Spinal Muscular Atrophy, X …

The UBA1 gene provides instructions for making the ubiquitin-activating enzyme E1. This enzyme is necessary for the ubiquitin-proteasome system, which targets damaged or unneeded …

Ubiquitin-like modifier activating enzyme 1 (UBA1), the E1 ubiquitin-activating enzyme, sits at the apex of the ubiquitin cascade and represents an important regulator of cellular protein …

Identification of UBA1 as the causative gene of an X-linked non-Kennedy spinal-bulbar muscular atrophy. Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients …

Aug 9, 2023 · UBA1 is the primary E1 ubiquitin-activating enzyme responsible for generation of activated ubiquitin required for ubiquitination, a process that regulates stability and function of...

Sep 30, 2024 · UBA1, an X-linked gene, encodes one of the only two ubiquitin E1 enzymes, playing a pivotal role in initiating one of the most essential post-translational modifications. In …

Feb 9, 2025 · Ubiquitin-activating enzyme (E1) isoforms in lens epithelial cells: origin of translation, E2 specificity and cellular localization determined with novel site-specific …