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Cps1
Gene Detail
 Symbol
Name
ID
Cps1
carbamoyl-phosphate synthetase 1
MGI:891996
Synonyms 4732433M03Rik, CPS, CPSase I, D1Ucla3
Feature Type protein coding gene
Genetic Map
Chromosome 1
33.75 cM, cytoband C3
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr1:67123026-67231259 bp, + strand
From VEGA annotation of GRCm38

  108234 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:68208  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: carbamoyl-phosphate synthase (ammonia)
Gene Tree: Cps1

Human
homologs
Human Homolog CPS1, carbamoyl-phosphate synthase 1, mitochondrial
NCBI Gene ID 1373
neXtProt AC  NX_P31327
Human Synonyms  CPSASE1, PHN
Human Chr (Location)  2q35; chr2:210477682-210679107 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human CPS1
Alleles
and
phenotypes
All alleles(1) : Targeted(1)
 
Homozygous mutation of this gene results in death by 36 hours after birth and hyperammonemia.
 
Human Diseases Modeled Using Mouse Cps1 (1)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (38 annotations)
Process anion homeostasis, carbamoyl phosphate biosynthetic process, ...
Component cytoplasm, mitochondrial inner membrane, ...
Function ATP binding, calcium ion binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (11 records)
Data Summary: Results (167)    Tissues (146)    Images (18)
Theiler Stages: 22, 23, 24, 26, 28
Assay TypeResults
RNA in situ 158
Northern blot 9
cDNA source data(74)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(78) cDNA(75) Primer pair(2) Other(1)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000026539 (Evidence)
Ensembl Gene ModelENSMUSG00000025991 (Evidence)
Entrez Gene227231 (Evidence)
UniGene343942
DFCITC1598315, TC1620367, TC1625493
DoTSDT.101301173, DT.55252968
NIA Mouse Gene IndexU000403
EC6.3.4.16
Consensus CDS ProjectCCDS35605.1
International Mouse Knockout Project StatusCps1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026539 VEGA Gene Model | MGI Sequence Detail 108234 C57BL/6J ±  kb
transcript OTTMUST00000065667 VEGA | MGI Sequence Detail 5555 Not Applicable 
polypeptide OTTMUSP00000032759 VEGA | MGI Sequence Detail 1500 Not Applicable 

For the selected sequences
All sequences(27) RefSeq(2) UniProt(2)
Polymorphisms RFLP(1) : SNPs within 2kb(1262 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR011761 ATP-grasp fold
InterPro IPR013815 ATP-grasp fold, subdomain 1
InterPro IPR013816 ATP-grasp fold, subdomain 2
InterPro IPR006275 Carbamoyl-phosphate synthase, large subunit
InterPro IPR005483 Carbamoyl-phosphate synthase large subunit, CPSase domain
InterPro IPR005481 Carbamoyl-phosphate synthase, large subunit, N-terminal
InterPro IPR006274 Carbamoyl-phosphate synthase, small subunit
InterPro IPR002474 Carbamoyl-phosphate synthase, small subunit N-terminal domain
InterPro IPR005479 Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain
InterPro IPR005480 Carbamoyl-phosphate synthetase, large subunit oligomerisation domain
InterPro IPR017926 Glutamine amidotransferase
InterPro IPR011607 Methylglyoxal synthase-like domain
InterPro IPR016185 Pre-ATP-grasp domain
Protein Ontology PR:000005827 carbamoyl-phosphate synthase [ammonia], mitochondrial
References (Earliest) J:144770 Bhat NK, et al., The transport and processing of carbamyl phosphate synthetase-I in mouse hepatic mitochondria. Biochem Biophys Res Commun. 1984 Jan 30;118(2):514-22
(Latest) J:199204 Kiyohashi K, et al., Wnt5a signaling mediates biliary differentiation of fetal hepatic stem/progenitor cells in mice. Hepatology. 2013 Jun;57(6):2502-13
All references(53)
Other
accession IDs
MGD-MRK-5718, MGI:3036229, MGI:91859

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory