GeneID: 321

Description:
The UBE2O gene encodes an E2/E3 hybrid ubiquitin (Ub)-protein ligase that displays both E2 and E3 ligase activities and mediates monoubiquitination of target proteins. Ubiquitination (Ub) is a major post-translational protein modification mediated by an enzymatic casade composed of E1 (Ub activating enzyme), E2 (Ub-conjugating enzyme) and E3 (Ub protein ligase). UBE2O is widely expressed, but preferentially in brain, skeletal muscle and heart tissues. It regulates the ubiquitination and biological functions of several proteins. For example, it negatively regulates TRAF6-mediated NF-kappa-B activation, and acts as a positive regulator of BMP7 signalling by mediating monoubiquitination of SMAD6, thereby regulating adipogenesis. In erythroid cells, UBE2O is upregulated during the reticulocyte stage of erythroid differentiation. Genetic variance in UBE2O gene associated with episodes of pain in patients with sickle cell disease.

Synonyms: E2-230K

Comments:
N/A

Number of entries/variants: 1

1. Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013 PubMed
2. Zhang X, Zhang J, Zhang L, van Dam H, ten Dijke P, UBE2O negatively regulates TRAF6-mediated NF-κB activation by inhibiting TRAF6 polyubiquitination., Cell Res., 23(3), 366-77, 2013 PubMed
3. Mashtalir N, Daou S, Barbour H, Sen NN, Gagnon J, Hammond-Martel I, Dar HH, Therrien M, Affar el B, Autodeubiquitination protects the tumor suppressor BAP1 from cytoplasmic sequestration mediated by the atypical ubiquitin ligase UBE2O., Mol. Cell, 54(3), 392-406, 2014 PubMed