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
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
Allele Type Localization Consequence Mutagen Supplier
la026976TgTransgenic insertionUnknownUnknownDNA
sa7635Allele with one point mutationUnknownMissenseENU
sa10807Allele with one point mutationUnknownPremature StopENU
sa18960Allele with one point mutationUnknownPremature StopENU
sa34714Allele with one point mutationUnknownSplice SiteENU
sa41493Allele with one point mutationUnknownSplice SiteENU
sa44709Allele with one point mutationUnknownUnknownENU
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
MO1-cps1N/ALemoine et al., 2013
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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
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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
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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
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 9
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA cps1-201 (1) Ensembl 4,636 nt
mRNA cps1-202 (1) Ensembl 4,497 nt
mRNA cps1-203 (1) Ensembl 4,494 nt
mRNA cps1-204 (1) Ensembl 4,539 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-225D17ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanCPS12
Amino acid sequence comparison (2)
Conserved genome location (synteny) (1)
MouseCps11
Amino acid sequence comparison (2)
Conserved genome location (synteny) (1)
Citations
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