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: 51733
MIM: 606673
HGNC: 16297
Ensembl: ENSG00000100024
Variants:
dbSNP: 51733
ClinVar: 51733
TCGA: ENSG00000100024
COSMIC: UPB1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000100024 | ENST00000326010 | Q9UBR1 |
| ENSG00000100024 | ENST00000326010 | A0A024R1H3 |
| ENSG00000100024 | ENST00000382760 | Q6AHZ8 |
| ENSG00000100024 | ENST00000415388 | F8WC94 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37859333 | 2024 | Low UPB1 Level Correlates With Poor Prognosis in Lung Adenocarcinoma. | 0 |
| 37859333 | 2024 | Low UPB1 Level Correlates With Poor Prognosis in Lung Adenocarcinoma. | 0 |
| 38136634 | 2023 | The Allosteric Regulation of Β-Ureidopropionase Depends on Fine-Tuned Stability of Active-Site Loops and Subunit Interfaces. | 0 |
| 38136634 | 2023 | The Allosteric Regulation of Β-Ureidopropionase Depends on Fine-Tuned Stability of Active-Site Loops and Subunit Interfaces. | 0 |
| 35151535 | 2022 | β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity. | 2 |
| 35926322 | 2022 | The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain. | 1 |
| 35151535 | 2022 | β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity. | 2 |
| 35926322 | 2022 | The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain. | 1 |
| 29976570 | 2018 | Crystal structure and pH-dependent allosteric regulation of human β-ureidopropionase, an enzyme involved in anticancer drug metabolism. | 5 |
| 30512155 | 2018 | [Identification of a novel mutation of UPB1 gene in a Chinese family affected with beta-ureidopropinoase deficiency]. | 0 |
| 29976570 | 2018 | Crystal structure and pH-dependent allosteric regulation of human β-ureidopropionase, an enzyme involved in anticancer drug metabolism. | 5 |
| 30512155 | 2018 | [Identification of a novel mutation of UPB1 gene in a Chinese family affected with beta-ureidopropinoase deficiency]. | 0 |
| 24526388 | 2014 | Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected]. | 10 |
| 25236466 | 2014 | Genetic analysis of the UPB1 gene in two new Chinese families with β-ureidopropionase deficiency and the carrier frequency of the mutation c.977G>A in Northern China. | 6 |
| 24526388 | 2014 | Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected]. | 10 |
Citation
Dessen P
UPB1 (beta-ureidopropionase 1)
Atlas Genet Cytogenet Oncol Haematol. 2019-04-01
Online version: http://atlasgeneticsoncology.org/gene/57807/new-content/gene-fusions-explorer/
