UBA5 Antibody

1. UFM1 His 70 resembles UBA5 His336 and enters a negatively charged pocked on the other UFM1 molecule. PMID: 28360427
2. These findings explicitly elucidate the role of UBA5 dimerization in UFM1 activation. PMID: 27653677
3. Heterozygous mutations in the UBA5 gene in two sisters with early-onset epileptic encephalopathy . PMID: 28965491
4. Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy PMID: 27545674
5. clinical, biochemical, and experimental findings support our finding of UBA5 mutations as a pathophysiological cause for early-onset encephalopathies due to abnormal protein ufmylation PMID: 27545681
6. study provides important structural and functional insights into the interaction between UBA5 and Ub-like modifiers, improving the understanding of the biology of the ufmylation pathway. PMID: 26929408
7. The study of UBA5-R246X revealed a dramatically decreased half-life and loss of UFM1 activation due to the absence of the catalytic cysteine Cys250. PMID: 26872069
8. Uba5 residues 364-404 were demonstrated to be necessary for the transthiolation of Ufm1 to Ufc1, and Uba5 381-404 was identified to be the minimal region for Ufc1 recognition PMID: 25084390
9. Crystallization of Uba5 residues 57-363 was performed at 277 K using PEG 3350 as the precipitant, and crystals optimized by microseeding diffracted to 2.95 A resolution, with unit-cell parameters a=b=97.66, c=144.83 A, alpha=beta=90, gamma=120 degrees . PMID: 24915089
10. binding of ATP to Uba5 approximately Ufm1 thioester was required for efficient transfer of Ufm1 from Uba5 to Ufc1 via transthiolation. PMID: 24966333
11. Studies reveal structural features of UBA5 that further understanding of the enzyme reaction mechanism and provide insight into the evolution of ubiquitin activation. PMID: 20368332
12. UBE1DC1 greatly activated SUMO2 in the nucleus or transferred activated-SUMO2 to nucleus after it conjugated SUMO2 in the cytoplasm. PMID: 18442052

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HGNC: 23230

OMIM: 610552

KEGG: hsa:79876

STRING: 9606.ENSP00000348565

UniGene: Hs.170737