Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 197131
MIM: 605981
HGNC: 16808
Ensembl: ENSG00000159459
Variants:
dbSNP: 197131
ClinVar: 197131
TCGA: ENSG00000159459
COSMIC: UBR1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37057345 | 2023 | Identification of Ubr1 as an amino acid sensor of steatosis in liver and muscle. | 2 |
| 37057345 | 2023 | Identification of Ubr1 as an amino acid sensor of steatosis in liver and muscle. | 2 |
| 35233680 | 2022 | Ubr1-induced selective endophagy/autophagy protects against the endosomal and Ca(2+)-induced proteostasis disease stress. | 5 |
| 35233680 | 2022 | Ubr1-induced selective endophagy/autophagy protects against the endosomal and Ca(2+)-induced proteostasis disease stress. | 5 |
| 29178640 | 2017 | Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis. | 5 |
| 29178640 | 2017 | Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis. | 5 |
| 27397733 | 2016 | Variants in the UBR1 gene are not associated with chronic pancreatitis in Japan. | 1 |
| 27397733 | 2016 | Variants in the UBR1 gene are not associated with chronic pancreatitis in Japan. | 1 |
| 26183928 | 2015 | Implication of a Chromosome 15q15.2 Locus in Regulating UBR1 and Predisposing Smokers to MGMT Methylation in Lung. | 1 |
| 26183928 | 2015 | Implication of a Chromosome 15q15.2 Locus in Regulating UBR1 and Predisposing Smokers to MGMT Methylation in Lung. | 1 |
| 24599544 | 2014 | Mutations in the human UBR1 gene and the associated phenotypic spectrum. | 12 |
| 24599544 | 2014 | Mutations in the human UBR1 gene and the associated phenotypic spectrum. | 12 |
| 21711208 | 2012 | Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach. | 1 |
| 21711208 | 2012 | Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach. | 1 |
| 20556423 | 2011 | Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome. | 5 |
Citation
Dessen P
UBR1 (ubiquitin protein ligase E3 component n-recognin 1)
Atlas Genet Cytogenet Oncol Haematol. 2015-11-01
Online version: http://atlasgeneticsoncology.org/gene/55519/ubr1-(ubiquitin-protein-ligase-e3-component-n-recognin-1)
