Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Cps1. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of February 12, 2009. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Cps1
  • is located in the following cellular components:
    • mitochondrion ^{[1, 4]}
• The gene product of Cps1 has been shown to bind to the gene products of Sirt5. ^[2]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Cps1
  • participates in the following biological processes:
    • metabolic process ^[3]
  • performs the following molecular functions:
    • carbamoyl-phosphate synthase (ammonia) activity ^[3]
• Based on the experimental annotations above, MGI curators have inferred, that the gene product of Cps1
  • participates in the following biological processes:
    • urea cycle ^[3]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Cps1:
  • participates in the following biological processes:
    • anion homeostasis
    • carbamoyl phosphate biosynthetic process
    • glycogen catabolic process
    • homocysteine metabolic process
    • nitric oxide metabolic process
    • positive regulation of vasodilation
    • response to lipopolysaccharide
    • triglyceride catabolic process
    • urea cycle
  • performs the following molecular functions:
    • ATP binding
    • calcium ion binding
    • carbamoyl-phosphate synthase (ammonia) activity
    • endopeptidase activity
    • glutamate binding
    • modified amino acid binding
    • phospholipid binding
    • protein complex binding
  • is located in the following cellular components:
    • cytoplasm
    • mitochondrial inner membrane
    • mitochondrial nucleoid
    • mitochondrion
    • protein complex

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Summary text based on GO annotations supported by structural data

• Cps1 encodes a protein or proteins that contain the following InterPro domains: ATP-grasp fold, ATP-grasp fold, subdomain 1, ATP-grasp fold, subdomain 2, Carbamoyl-phosphate synthase large subunit, CPSase domain, Carbamoyl-phosphate synthase, large subunit, Carbamoyl-phosphate synthase, large subunit, N-terminal, Carbamoyl-phosphate synthase, small subunit, Carbamoyl-phosphate synthase, small subunit N-terminal domain, Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain, Carbamoyl-phosphate synthetase, large subunit oligomerisation domain, Glutamine amidotransferase type 1, Methylglyoxal synthase-like domain, Pre-ATP-grasp fold, indicating that the gene product:
  • participates in the following biological processes:
    • glutamine catabolic process
    • nitrogen compound metabolic process
  • performs the following molecular functions:
    • catalytic activity
    • metal ion binding

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Cps1 indicates that it:
  • performs the following molecular functions:
    • catalytic activity
    • ligase activity
    • nucleotide binding
  • is located in the following cellular components:
    • nucleus

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References

1. Bhat NK et al. (1984) The transport and processing of carbamyl phosphate synthetase-I in mouse hepatic mitochondria. Biochem Biophys Res Commun, 118:514-22. (PubMed:6200105)
2. Nakagawa T et al. (2009) SIRT5 Deacetylates carbamoyl phosphate synthetase 1 and regulates the urea cycle. Cell, 137:560-70. (PubMed:19410549)
3. Schofield JP et al. (1999) Mice deficient in the urea-cycle enzyme, carbamoyl phosphate synthetase I, die during the early neonatal period from hyperammonemia. Hepatology, 29:181-5. (PubMed:9862865)
4. Takakusa H et al. (2012) Protein tyrosine nitration of mitochondrial carbamoyl phosphate synthetase 1 and its functional consequences. Biochem Biophys Res Commun, 420:54-60. (PubMed:22402285)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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