Version 5.4
Homo sapiens Gene: CPS1
Summary
InnateDB Gene IDBG-79973.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CPS1
Gene Name carbamoyl-phosphate synthase 1, mitochondrial
Synonyms CPSASE1; PHN
Species Homo sapiens
Ensembl Gene ENSG00000021826
Encoded Proteins
IDBP-79975
carbamoyl-phosphate synthase 1, mitochondrial
IDBP-388709
carbamoyl-phosphate synthase 1, mitochondrial
IDBP-388714
carbamoyl-phosphate synthase 1, mitochondrial
IDBP-388716
carbamoyl-phosphate synthase 1, mitochondrial
IDBP-474539
carbamoyl-phosphate synthase 1, mitochondrial
IDBP-475392
carbamoyl-phosphate synthase 1, mitochondrial
IDBP-813369
carbamoyl-phosphate synthase 1, mitochondrial
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:210477682-210679107
Strand Forward strand
Band q34
Transcripts
ENST00000233072 ENSP00000233072
ENST00000417946 ENSP00000388496
ENST00000430249 ENSP00000402608
ENST00000451903 ENSP00000406136
ENST00000518043 ENSP00000430697
ENST00000523702 ENSP00000430644
ENST00000497163
ENST00000467353
ENST00000497121
ENST00000470791
ENST00000479988
ENST00000619804 ENSP00000480517
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 29 [view]
Protein-Protein 27 [view]
Protein-DNA 0
Protein-RNA 1 [view]
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004087 carbamoyl-phosphate synthase (ammonia) activity
GO:0004175 endopeptidase activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005543 phospholipid binding
GO:0008716 D-alanine-D-alanine ligase activity
GO:0016595 glutamate binding
GO:0032403 protein complex binding
GO:0046872 metal ion binding
GO:0072341 modified amino acid binding
Biological Process
GO:0000050 urea cycle
GO:0001101 response to acid
GO:0001889 liver development
GO:0005980 glycogen catabolic process
GO:0006508 proteolysis
GO:0006543 glutamine catabolic process
GO:0006807 nitrogen compound metabolic process
GO:0007494 midgut development
GO:0008152 metabolic process
GO:0009636 response to toxic substance
GO:0010043 response to zinc ion
GO:0014075 response to amine
GO:0019240 citrulline biosynthetic process
GO:0019433 triglyceride catabolic process
GO:0032094 response to food
GO:0032496 response to lipopolysaccharide
GO:0033762 response to glucagon
GO:0034201 response to oleic acid
GO:0034641 cellular nitrogen compound metabolic process
GO:0042493 response to drug
GO:0042594 response to starvation
GO:0043200 response to amino acid
GO:0044281 small molecule metabolic process
GO:0044344 cellular response to fibroblast growth factor stimulus
GO:0045909 positive regulation of vasodilation
GO:0046209 nitric oxide metabolic process
GO:0048545 response to steroid hormone
GO:0050667 homocysteine metabolic process
GO:0051384 response to glucocorticoid
GO:0051591 response to cAMP
GO:0055081 anion homeostasis
GO:0060416 response to growth hormone
GO:0070365 hepatocyte differentiation
GO:0070409 carbamoyl phosphate biosynthetic process
GO:0071320 cellular response to cAMP
GO:0071377 cellular response to glucagon stimulus
GO:0071400 cellular response to oleic acid
GO:0071548 response to dexamethasone
Cellular Component
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix
GO:0042645 mitochondrial nucleoid
GO:0043234 protein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000025991
View Gene Order
ENSBTAG00000016662
Not yet available
Pathways
NETPATH
REACTOME
REACT_847
Urea cycle pathway
REACT_13
Metabolism of amino acids and derivatives pathway
REACT_111217
Metabolism pathway
KEGG
hsa00330
Arginine and proline metabolism pathway
hsa00910
Nitrogen metabolism pathway
hsa00250
Alanine, aspartate and glutamate metabolism pathway
INOH
INOH website
Glutamate Glutamine metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.149252
RefSeq NM_001122633 NM_001122634 NM_001875
HUGO
OMIM
CCDS CCDS2393 CCDS46505 CCDS46506
HPRD 01995
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca