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 folding and degradation, among many other biological processes.[5][7] This protein has been linked to X-linked spinal muscular atrophy type 2, neurodegenerative diseases, and cancers.[8][9]
^ abcGRCh38: Ensembl release 89: ENSG00000130985 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000001924 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Kudo M, Sugasawa K, Hori T, Enomoto T, Hanaoka F, Ui M (January 1991). "Human ubiquitin-activating enzyme (E1): compensation for heat-labile mouse E1 and its gene localization on the X chromosome". Experimental Cell Research. 192 (1): 110–7. doi:10.1016/0014-4827(91)90164-P. PMID 1845793.
^Leidecker O, Matic I, Mahata B, Pion E, Xirodimas DP (March 2012). "The ubiquitin E1 enzyme Ube1 mediates NEDD8 activation under diverse stress conditions". Cell Cycle. 11 (6): 1142–50. doi:10.4161/cc.11.6.19559. PMID 22370482.
^Correale S, de Paola I, Morgillo CM, Federico A, Zaccaro L, Pallante P, Galeone A, Fusco A, Pedone E, Luque FJ, Catalanotti B (2014). "Structural model of the hUbA1-UbcH10 quaternary complex: in silico and experimental analysis of the protein-protein interactions between E1, E2 and ubiquitin". PLOS ONE. 9 (11): e112082. Bibcode:2014PLoSO...9k2082C. doi:10.1371/journal.pone.0112082. PMC 4223017. PMID 25375166.
^Ungermannova D, Parker SJ, Nasveschuk CG, Wang W, Quade B, Zhang G, Kuchta RD, Phillips AJ, Liu X (2012). "Largazole and its derivatives selectively inhibit ubiquitin activating enzyme (e1)". PLOS ONE. 7 (1): e29208. Bibcode:2012PLoSO...729208U. doi:10.1371/journal.pone.0029208. PMC 3261141. PMID 22279528.
Ubiquitin-like modifier activating enzyme 1 (UBA1) is an enzyme which in humans is encoded by the UBA1 gene. UBA1 participates in ubiquitination and the NEDD8...
autoinflammatory disease primarily affecting males, caused by a somatic mutation of the UBA1 gene in hematopoietic progenitor cells. The name VEXAS is an acronym deriving...
contains two genes that produce enzymes capable of activating ubiquitin: UBA1 and UBA6. Conjugation: E2 ubiquitin-conjugating enzymes catalyse the transfer...
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