Gene
cps1
- ID
- ZDB-GENE-081105-17
- Name
- carbamoyl-phosphate synthase 1, mitochondrial
- Symbol
- cps1 Nomenclature History
- Previous Names
-
- CPSIII (1)
- si:dkey-225d17.3
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Exhibits carbamoyl-phosphate synthase (ammonia) activity. Predicted to contribute to carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity. Involved in ammonia homeostasis and urea cycle. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in carbamoyl phosphate synthetase I deficiency disease; persistent fetal circulation syndrome; and vascular disease. Is expressed in ball; brain; liver; and muscle. Orthologous to human CPS1 (carbamoyl-phosphate synthase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Lemoine et al., 2013
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
carbamoyl phosphate synthetase I deficiency disease | Alliance | Carbamoylphosphate synthetase I deficiency | 237300 |
{Pulmonary hypertension, neonatal, susceptibility to} | 615371 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR002474 | Carbamoyl-phosphate synthase small subunit, N-terminal domain |
Domain | IPR005479 | Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain |
Domain | IPR005480 | Carbamoyl-phosphate synthetase, large subunit oligomerisation domain |
Domain | IPR005483 | Carbamoyl-phosphate synthase large subunit, CPSase domain |
Domain | IPR011607 | Methylglyoxal synthase-like domain |
Domain | IPR011761 | ATP-grasp fold |
Domain | IPR017926 | Glutamine amidotransferase |
Domain | IPR035686 | Carbamoyl-phosphate synthase small subunit, GATase1 domain |
Family | IPR006274 | Carbamoyl-phosphate synthase, small subunit |
Family | IPR006275 | Carbamoyl-phosphate synthase, large subunit |
Homologous_superfamily | IPR013815 | ATP-grasp fold, subdomain 1 |
Homologous_superfamily | IPR016185 | Pre-ATP-grasp domain superfamily |
Homologous_superfamily | IPR029062 | Class I glutamine amidotransferase-like |
Homologous_superfamily | IPR036480 | Carbamoyl-phosphate synthase small subunit, N-terminal domain superfamily |
Homologous_superfamily | IPR036897 | Carbamoyl-phosphate synthetase, large subunit oligomerisation domain superfamily |
Homologous_superfamily | IPR036914 | Methylglyoxal synthase-like domain superfamily |
Domain Details Per Protein
Protein | Length | ATP-grasp fold | ATP-grasp fold, subdomain 1 | Carbamoyl-phosphate synthase, large subunit | Carbamoyl-phosphate synthase large subunit, CPSase domain | Carbamoyl-phosphate synthase, small subunit | Carbamoyl-phosphate synthase small subunit, GATase1 domain | Carbamoyl-phosphate synthase small subunit, N-terminal domain | Carbamoyl-phosphate synthase small subunit, N-terminal domain superfamily | Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain | Carbamoyl-phosphate synthetase, large subunit oligomerisation domain | Carbamoyl-phosphate synthetase, large subunit oligomerisation domain superfamily | Class I glutamine amidotransferase-like | Glutamine amidotransferase | Methylglyoxal synthase-like domain | Methylglyoxal synthase-like domain superfamily | Pre-ATP-grasp domain superfamily |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8N7TAJ3
|
1508 | ||||||||||||||||
UniProtKB:A0A8M6Z2T2
|
1069 |
Interactions and Pathways
No data available
Plasmids
No data available