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
Enables carbamoyl-phosphate synthase (ammonia) activity. Acts upstream of or within ammonium homeostasis and urea cycle. 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
Expression
All Expression Data
3 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Lemoine et al., 2013
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With cps1 Human Ortholog
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
Associated With cps1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
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:F6PBT6 1482
UniProtKB:A0A0R4IPA8 1498
UniProtKB:A0A2R8Q0M3 1512
UniProtKB:A0A2R8RN62 1497
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations