UBA1

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UBA1

A gene on chromosome Xp11.23 that encodes a protein that activates ubiquitin by adenylating its C-terminal glycine residue with ATP, yielding an ubiquitin-E1 thioester and free AMP.
References in periodicals archive ?
The CIITA in vitro ubiquitination assay was carried out in 150 [micro]L of reaction mixture containing 40 mM Tris-HCL (pH 7.5), 5mM Mg[Cl.sub.2], 2mM dithiothreitol, 1mM Creatine Phosphate, 2mM ATP, 400 ng of Recombinant GST-CIITA (substrate), 400 ng of GSTHdm2 (Boston Biochem), 400 ng Recombinant His-pCAF (E3 ligase candidate) (Proteinone Rockville, MD), 500 ng Flag ubiquitin (Boston Biochem, Boston, MA), 200 ng E1 activating enzyme, UBE1 (Boston Biochem), 200 ng E2 conjugating enzyme, and UbcH5b (Boston Biochem).
Caption: Figure 4: Pathogenic mechanisms underlying motor neuron disease in children of these genetic variants associated with paediatric motor neuron diseases relate to disordered regulation of autophagy/protein quality control (ASAH1, UBE1, UBQLN1, LYST, ATXN3, and SCP2), RNA processing (VRK1, EXOSC3, EXOSC8, TSEN54, SLC254A6, MORC2, SMN1, TRIP4, ASCC1, UBA1, GLE1, ERBB3, IGHMBP2, and RBM28), and cytoskeletal dynamics (ASAH1, BICD2, and DYNC1H1).
Early death Spinal muscular Antenatal Congenital fractures, UBE1 atrophy, X-linked arthrogryposis, and (SMAX2) tongue fasciculation Lethal Antenatal Fetal akinesia GLE1 arthrogryposis deformation sequence.