Identity
HGNC
LOCATION
2q34
LOCUSID
ALIAS
CPSASE1,GATD6,PHN
FUSION GENES
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: 1373
MIM: 608307
HGNC: 2323
Ensembl: ENSG00000021826
Variants:
dbSNP: 1373
ClinVar: 1373
TCGA: ENSG00000021826
COSMIC: CPS1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA143485705 | antiepileptics | Chemical | VariantAnnotation | associated | PD | 20456087 | |
| PA166114316 | sodium phenylbutyrate | Chemical | LabelAnnotation | associated | |||
| PA166176020 | sodium benzoate / sodium phenylacetate | Chemical | LabelAnnotation | associated | |||
| PA444065 | Epilepsy | Disease | VariantAnnotation | associated | PD | 20456087 | |
| PA447146 | Hyperammonemia | Disease | VariantAnnotation | associated | PD | 20456087 | |
| PA450423 | l-methionine | Chemical | Literature, MultilinkAnnotation | associated | 24651765 | ||
| PA451846 | valproic acid | Chemical | VariantAnnotation | associated | PD | 20456087 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36809953 | 2023 | Integrated Proteomics and Metabolomics Analyses of Serum in Chinese Patients with Severe and Active Graves' Orbitopathy: A Cross-sectional Study. | 0 |
| 37047726 | 2023 | NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells. | 0 |
| 37054752 | 2023 | The Role of Carbamoyl Phosphate Synthetase 1 as a Prognostic Biomarker in Patients With Acetaminophen-induced Acute Liver Failure. | 9 |
| 37427576 | 2023 | Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency. | 0 |
| 36809953 | 2023 | Integrated Proteomics and Metabolomics Analyses of Serum in Chinese Patients with Severe and Active Graves' Orbitopathy: A Cross-sectional Study. | 0 |
| 37047726 | 2023 | NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells. | 0 |
| 37054752 | 2023 | The Role of Carbamoyl Phosphate Synthetase 1 as a Prognostic Biomarker in Patients With Acetaminophen-induced Acute Liver Failure. | 9 |
| 37427576 | 2023 | Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency. | 0 |
| 34973183 | 2022 | Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency. | 1 |
| 36064721 | 2022 | O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis. | 6 |
| 36098904 | 2022 | Ornithine aminotransferase and carbamoyl phosphate synthetase 1 involved in ammonia metabolism serve as novel targets for early stages of gastric cancer. | 1 |
| 34973183 | 2022 | Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency. | 1 |
| 36064721 | 2022 | O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis. | 6 |
| 36098904 | 2022 | Ornithine aminotransferase and carbamoyl phosphate synthetase 1 involved in ammonia metabolism serve as novel targets for early stages of gastric cancer. | 1 |
| 33387664 | 2021 | Mitochondrial dysfunction as a mechanistic biomarker in patients with non-alcoholic fatty liver disease (NAFLD). | 26 |
Citation
Dessen P
CPS1 (carbamoyl-phosphate synthase 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-09-01
Online version: http://atlasgeneticsoncology.org/gene/49721/cps1
