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

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Cps1 ± 2 cM)

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

Human ortholog

CPS1 carbamoyl-phosphate synthase 1, mitochondrial NCBI Gene ID 1373
Human Synonyms: CPSASE1
Human Chr2:211342409-211543831 bp, + strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human CPS1 (3)

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: (36 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: (9 records)
Data Summary: Results (118)    Tissues (97)    Images (16)
Theiler Stages: 22, 23, 24, 28

Assay Type	Results
RNA in situ	109
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 Model	OTTMUSG00000026539 (Evidence)
Ensembl Gene Model	ENSMUSG00000025991 (Evidence)
Entrez Gene	227231 (Evidence)
UniGene	343942
DFCI	TC1598315, TC1620367, TC1625493
DoTS	DT.101301173, DT.55252968
NIA Mouse Gene Index	U000403
EC	6.3.4.16
Consensus CDS Project	CCDS35605.1
International Mouse Knockout Project Status	Cps1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000026539	VEGA Gene Model | MGI Sequence Detail	108234	C57BL/6J
transcript	OTTMUST00000065667	VEGA | MGI Sequence Detail	5555	Not Applicable
polypeptide	OTTMUSP00000032759	VEGA | MGI Sequence Detail	1500	Not Applicable

All sequences(25) RefSeq(2) UniProt(2)

Polymorphisms

RFLP(1) : SNPs(855 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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 type 1
InterPro	IPR011607	Methylglyoxal synthase-like domain
InterPro	IPR016185	Pre-ATP-grasp fold
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:182583 Takakusa H, et al., Protein tyrosine nitration of mitochondrial carbamoyl phosphate synthetase 1 and its functional consequences. Biochem Biophys Res Commun. 2012 Mar 30;420(1):54-60
All references(51)

Other accession IDs

MGD-MRK-5718, MGI:3036229, MGI:91859