Homo sapiens Protein: CPS1 | |||||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||||
InnateDB Protein | IDBP-79975.6 | ||||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||||
Gene Symbol | CPS1 | ||||||||||||||||||||||||||||
Protein Name | carbamoyl-phosphate synthase 1, mitochondrial | ||||||||||||||||||||||||||||
Synonyms | CPSASE1; PHN; | ||||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||||
Ensembl Protein | ENSP00000233072 | ||||||||||||||||||||||||||||
InnateDB Gene | IDBG-79973 (CPS1) | ||||||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||||||||
Function | Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell. | ||||||||||||||||||||||||||||
Subcellular Localization | Mitochondrion {ECO:0000269PubMed:22002106}. Nucleus, nucleolus {ECO:0000269PubMed:22002106}. | ||||||||||||||||||||||||||||
Disease Associations | Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]: An autosomal recessive disorder of the urea cycle causing hyperammonemia. It can present as a devastating metabolic disease dominated by severe hyperammonemia in neonates or as a more insidious late-onset condition, generally manifesting as life-threatening hyperammonemic crises under catabolic situations. Clinical features include protein intolerance, intermittent ataxia, seizures, lethargy, developmental delay and mental retardation. {ECO:0000269PubMed:11388595, ECO:0000269PubMed:11474210, ECO:0000269PubMed:12655559, ECO:0000269PubMed:12955727, ECO:0000269PubMed:15164414, ECO:0000269PubMed:15617192, ECO:0000269PubMed:16737834, ECO:0000269PubMed:17310273, ECO:0000269PubMed:20578160, ECO:0000269PubMed:21120950, ECO:0000269PubMed:9711878}. Note=The disease is caused by mutations affecting the gene represented in this entry.Pulmonary hypertension, neonatal (PHN) [MIM:615371]: A disease characterized by elevated pulmonary artery pressure. Pulmonary hypertension in the neonate is associated with multiple underlying problems such as respiratory distress syndrome, meconium aspiration syndrome, congenital diaphragmatic hernia, bronchopulmonary dysplasia, sepsis, or congenital heart disease. {ECO:0000269PubMed:11407344}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. CPS1 variants influence the availability of precursors for nitric oxide (NO) synthesis and play a role in clinical situations where endogenous NO production is critically important, such as neonatal pulmonary hypertension, increased pulmonary artery pressure following surgical repair of congenital heart defects or hepatovenocclusive disease following bone marrow transplantation. Infants with neonatal pulmonary hypertension homozygous for Thr- 1406 have lower L-arginine concentrations than neonates homozygous for Asn-1406 (PubMed:11407344). {ECO:0000269PubMed:11407344}. | ||||||||||||||||||||||||||||
Tissue Specificity | Primarily in the liver and small intestine. | ||||||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||||||
InterPro |
IPR002474
Carbamoyl-phosphate synthase, small subunit N-terminal domain IPR003135 ATP-grasp fold, ATP-dependent carboxylate-amine ligase-type IPR005479 Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain IPR005480 Carbamoyl-phosphate synthetase, large subunit oligomerisation domain IPR005481 Carbamoyl-phosphate synthase, large subunit, N-terminal IPR005483 Carbamoyl-phosphate synthase large subunit, CPSase domain IPR006274 Carbamoyl-phosphate synthase, small subunit IPR006275 Carbamoyl-phosphate synthase, large subunit IPR011095 D-alanine--D-alanine ligase, C-terminal IPR011607 Methylglyoxal synthase-like domain IPR011761 ATP-grasp fold IPR016185 Pre-ATP-grasp domain IPR017926 Glutamine amidotransferase IPR029062 Class I glutamine amidotransferase-like |
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PFAM |
PF00988
PF02222 PF02786 PF02787 PF00289 PF07478 PF02142 PF00117 |
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PRINTS |
PR00098
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PIRSF | |||||||||||||||||||||||||||||
SMART |
SM01097
SM01096 SM00851 |
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TIGRFAMs | |||||||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||||
SwissProt | P31327 | ||||||||||||||||||||||||||||
PhosphoSite | PhosphoSite-P31327 | ||||||||||||||||||||||||||||
TrEMBL | Q5R207 | ||||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||||
Entrez Gene | 1373 | ||||||||||||||||||||||||||||
UniGene | Hs.149252 | ||||||||||||||||||||||||||||
RefSeq | NP_001866 | ||||||||||||||||||||||||||||
HUGO | HGNC:2323 | ||||||||||||||||||||||||||||
OMIM | 608307 | ||||||||||||||||||||||||||||
CCDS | CCDS2393 | ||||||||||||||||||||||||||||
HPRD | 01995 | ||||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||||
EMBL | AB180937 AB208800 AC007970 AC008172 AF154830 AF536523 AK302778 AK316425 AY166970 AY166971 AY166972 AY166973 AY166974 AY166975 AY166976 AY166977 AY166978 AY166979 AY166980 AY166981 AY166982 AY166983 AY166984 AY166985 AY166986 AY166987 AY166988 AY166989 AY166990 AY166991 AY166992 AY166993 AY166994 AY166995 AY166996 AY166997 AY166998 AY166999 AY167000 AY167001 AY167002 AY167003 AY167004 AY167005 AY167006 AY167007 AY317138 BC140943 BX640601 CH471063 D90282 Y15793 | ||||||||||||||||||||||||||||
GenPept | AAD38072 AAI40944 AAN77181 AAO31763 AAP84318 AAY14960 BAA14328 BAD74208 BAD92037 BAH13804 BAH14796 CAA75785 CAE45707 EAW70492 EAW70494 | ||||||||||||||||||||||||||||