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Cps1 carbamoyl-phosphate synthetase 1 [ Mus musculus (house mouse) ]

Gene ID: 227231, updated on 5-Jan-2022

Summary

Official Symbol
Cps1provided by MGI
Official Full Name
carbamoyl-phosphate synthetase 1provided by MGI
Primary source
MGI:MGI:891996
See related
Ensembl:ENSMUSG00000025991
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
CPS; D1Ucla3; 4732433M03Rik
Summary
This gene encodes a protein localized to the inner mitochondrial matrix. The encoded protein plays a role in the detoxification of ammonia by catalyzing the first step in the urea cycle in which carbomyl-phosphate is synthesized from ammonia and bicarbonate. Carbamoyl-phosphate is subsequently converted to urea that is excreted by the kidneys. Deficiency of the encoded enzyme leads to an accumulation of ammonia in the blood. High levels of ammonia are toxic to the central nervous system and result in neurological disorders. [provided by RefSeq, Oct 2013]
Expression
Biased expression in liver adult (RPKM 294.0), liver E18 (RPKM 157.3) and 1 other tissue See more
Orthologs
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Genomic context

See Cps1 in Genome Data Viewer
Location:
1 C3; 1 33.75 cM
Exon count:
40
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (67151294..67270426)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (67122426..67231267)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 1 NC_000067.5 (67169640..67277022)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene histidyl-tRNA synthetase pseudogene Neighboring gene uncharacterized LOC115487097 Neighboring gene LanC (bacterial lantibiotic synthetase component C)-like 1 Neighboring gene predicted gene, 26342 Neighboring gene predicted gene, 39658

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding ISO
Inferred from Sequence Orthology
more info
 
enables calcium ion binding ISO
Inferred from Sequence Orthology
more info
 
enables carbamoyl-phosphate synthase (ammonia) activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables carbamoyl-phosphate synthase (ammonia) activity ISO
Inferred from Sequence Orthology
more info
 
enables carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity IEA
Inferred from Electronic Annotation
more info
 
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
 
enables endopeptidase activity ISO
Inferred from Sequence Orthology
more info
 
enables glutamate binding ISO
Inferred from Sequence Orthology
more info
 
enables ligase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables modified amino acid binding ISO
Inferred from Sequence Orthology
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables phospholipid binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in 'de novo' pyrimidine nucleobase biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in anion homeostasis ISO
Inferred from Sequence Orthology
more info
 
involved_in carbamoyl phosphate biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to ammonium ion ISO
Inferred from Sequence Orthology
more info
 
involved_in glutamine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in homocysteine metabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in nitric oxide metabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in nitrogen compound metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in response to lipopolysaccharide ISO
Inferred from Sequence Orthology
more info
 
involved_in triglyceride catabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within urea cycle IC
Inferred by Curator
more info
PubMed 
involved_in urea cycle ISO
Inferred from Sequence Orthology
more info
 
involved_in vasodilation ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrial inner membrane ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrial nucleoid ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
 
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
carbamoyl-phosphate synthase [ammonia], mitochondrial
Names
CPSase I
carbamoyl-phosphate synthetase I
carbamoylphosphate synthetase I
NP_001074278.1
XP_011236802.1
XP_036020343.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001080809.2NP_001074278.1  carbamoyl-phosphate synthase [ammonia], mitochondrial precursor

    See identical proteins and their annotated locations for NP_001074278.1

    Status: REVIEWED

    Source sequence(s)
    AI046442, AK028683, BC126969, BY790286
    Consensus CDS
    CCDS35605.1
    UniProtKB/Swiss-Prot
    Q8C196
    Related
    ENSMUSP00000027144.8, ENSMUST00000027144.8
    Conserved Domains (2) summary
    TIGR01368
    Location:46400
    CPSaseIIsmall; carbamoyl-phosphate synthase, small subunit
    TIGR01369
    Location:4191477
    CPSaseII_lrg; carbamoyl-phosphate synthase, large subunit

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    67151294..67270426
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036164450.1XP_036020343.1  carbamoyl-phosphate synthase [ammonia], mitochondrial isoform X1

    Conserved Domains (2) summary
    TIGR01368
    Location:46400
    CPSaseIIsmall; carbamoyl-phosphate synthase, small subunit
    TIGR01369
    Location:4191477
    CPSaseII_lrg; carbamoyl-phosphate synthase, large subunit
  2. XM_011238500.1XP_011236802.1  carbamoyl-phosphate synthase [ammonia], mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011236802.1

    UniProtKB/Swiss-Prot
    Q8C196
    Conserved Domains (2) summary
    TIGR01368
    Location:46400
    CPSaseIIsmall; carbamoyl-phosphate synthase, small subunit
    TIGR01369
    Location:4191477
    CPSaseII_lrg; carbamoyl-phosphate synthase, large subunit
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