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

    Gene ID: 227231, updated on 27-Nov-2024

    Summary

    Official Symbol
    Cps1provided by MGI
    Official Full Name
    carbamoyl-phosphate synthetase 1provided by MGI
    Primary source
    MGI:MGI:891996
    See related
    Ensembl:ENSMUSG00000025991 AllianceGenome:MGI:891996
    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
    NEW
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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
    RS_2024_02 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)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_01194 Neighboring gene histidyl-tRNA synthetase pseudogene Neighboring gene LanC (bacterial lantibiotic synthetase component C)-like 1 Neighboring gene predicted gene, 57531 Neighboring gene STARR-seq mESC enhancer starr_01196 Neighboring gene STARR-seq mESC enhancer starr_01197 Neighboring gene STARR-seq mESC enhancer starr_01198 Neighboring gene predicted gene, 26342 Neighboring gene STARR-seq mESC enhancer starr_01199 Neighboring gene STARR-seq mESC enhancer starr_01200 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)
    • Endonuclease-mediated (7) 
    • Targeted (1)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calcium ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables carbamoyl-phosphate synthase (ammonia) activity IBA
    Inferred from Biological aspect of Ancestor
    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
     
    contributes_to carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables glutamate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables glutamate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables metal ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables modified amino acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables modified amino acid binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phospholipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phospholipid binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables potassium ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables small molecule 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 carbamoyl phosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in carbamoyl phosphate biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to ammonium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to ammonium ion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to fibroblast growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to glucagon stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to oleic acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glutamine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glutamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hepatocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homocysteine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homocysteine metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in midgut development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic anion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic anion homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in nitric oxide metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nitric oxide metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to amine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to amino acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to dexamethasone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to food IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to growth hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to lipopolysaccharide ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to starvation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in triglyceride catabolic process IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    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
     
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrial nucleoid IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-containing complex 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)

    NEW Try the new Transcript table

    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
      A0JNU4, Q6NX75, 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: GCF_000001635.27-RS_2024_02

    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

      UniProtKB/Swiss-Prot
      A0JNU4, Q6NX75, Q8C196
      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
      A0JNU4, Q6NX75, Q8C196
      Conserved Domains (2) summary
      TIGR01368
      Location:46400
      CPSaseIIsmall; carbamoyl-phosphate synthase, small subunit
      TIGR01369
      Location:4191477
      CPSaseII_lrg; carbamoyl-phosphate synthase, large subunit