ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Enables carbamoyl-phosphate synthase (ammonia) activity. Acts upstream of or within ammonium homeostasis and urea cycle. Predicted to be located in mitochondrion. Predicted to be active in cytoplasm. Is expressed in ball; brain; liver; and muscle. Human ortholog(s) of this gene implicated in carbamoyl phosphate synthetase I deficiency disease; persistent fetal circulation syndrome; and vascular disease. 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 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
| Protein | Additional Resources | Length |
|---|---|---|
| UniProtKB:A0A8N7TAJ3 | InterPro | 1508 |
| UniProtKB:A0A8M6Z2T2 | InterPro | 1069 |
| UniProtKB:A0AC58GH55 | InterPro | 1508 |
| UniProtKB:A0AC58GH56 | InterPro | 1092 |
| UniProtKB:A0AC58GH61 | InterPro | 1092 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers