UBR1 Antibody

1. UBR1 mutations of single or multi-exon deletions or duplications account for a substantial proportion of Johanson-Blizzard syndrome. PMID: 29178640
2. The frequency of any non-synonymous or synonymous variants was not different between the patients with chronic pancreatitis and controls PMID: 27397733
3. Reduced UBR1 expression affects MGMT turnover and DNA repair in the smokers lungs. PMID: 26183928
4. For all previously reported and novel UBR1 mutations together with their clinical data, a mutation database has been established at LOVD. PMID: 24599544
5. Testing the fetus and the affected sibling with recurrent Johanson-Blizzard syndrome revealed a homozygous truncating mutation in UBR1. PMID: 21711208
6. Results confirmed the relevance of specific missense UBR1 alleles to JBS, and suggested that a residual activity of a missense allele is causally associated with milder variants of JBS. PMID: 21931868
7. Molecular studies revealed a novel homozygous nonsense mutation in exon 38 of the UBR1 gene, which confirmed the diagnosis of Johanson-Blizzard syndrome. PMID: 20556423
8. Ubc2/Rad6 ser(120) regulates ubiquitin-dependent N-end rule targeting by E3{alpha}/Ubr1 PMID: 21041297
9. Deficiency of UBR1 perturbs the pancreas' acinar cells and other organs, presumably owing to metabolic stabilization of specific substrates of the N-end rule pathway. PMID: 16311597
10. Sustained ERK5 activity and the E3 ligase UBR1 regulate the stability and subcellular localization of c-Fos. PMID: 17018293
11. Thus we propose that autoISGylation of EFP negatively regulates its ISG15 E3 ligase activity for 14-3-3sigma. PMID: 17222803
12. These results suggest that Rabring7 is involved in the endocytic trafficking of EGFR through its E3 ligase activity. PMID: 17462600
13. Thiazolidinediones modulate the expression of beta catenin and other cell cycle proteins by targeting UBR1 independently of PPARG. PMID: 17569795
14. E3 ubiquitin ligase is an essential downstream component of the RAS signal transduction pathway. PMID: 18089810
15. study reports on two apparently unrelated girls with Johanson-Blizzard syndrome, in both children caused by a homozygous IVS26+5G>A mutation in the UBR1 gene PMID: 19006206
16. Case Report: Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. PMID: 19058315

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HGNC: 16808

OMIM: 243800

KEGG: hsa:197131

STRING: 9606.ENSP00000290650

UniGene: Hs.591121