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P31327

- CPSM_HUMAN

UniProt

P31327 - CPSM_HUMAN

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Protein

Carbamoyl-phosphate synthase [ammonia], mitochondrial

Gene

CPS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell.

Catalytic activityi

2 ATP + NH3 + CO2 + H2O = 2 ADP + phosphate + carbamoyl phosphate.

Enzyme regulationi

Requires N-acetyl-L-glutamate (NAG) as an allosteric activator.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei1391 – 13911Allosteric activatorCurated
Binding sitei1394 – 13941Allosteric activatorCurated
Binding sitei1410 – 14101Allosteric activatorCurated
Binding sitei1437 – 14371Allosteric activatorCurated
Binding sitei1440 – 14401Allosteric activatorCurated
Binding sitei1449 – 14491Allosteric activatorCurated

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. calcium ion binding Source: Ensembl
  3. carbamoyl-phosphate synthase (ammonia) activity Source: BHF-UCL
  4. endopeptidase activity Source: Ensembl
  5. glutamate binding Source: Ensembl
  6. modified amino acid binding Source: UniProtKB
  7. phospholipid binding Source: Ensembl

GO - Biological processi

  1. anion homeostasis Source: Ensembl
  2. carbamoyl phosphate biosynthetic process Source: UniProtKB
  3. cellular nitrogen compound metabolic process Source: Reactome
  4. cellular response to cAMP Source: Ensembl
  5. cellular response to fibroblast growth factor stimulus Source: Ensembl
  6. cellular response to glucagon stimulus Source: Ensembl
  7. cellular response to oleic acid Source: Ensembl
  8. citrulline biosynthetic process Source: BHF-UCL
  9. glutamine catabolic process Source: InterPro
  10. glycogen catabolic process Source: BHF-UCL
  11. hepatocyte differentiation Source: Ensembl
  12. homocysteine metabolic process Source: UniProtKB
  13. midgut development Source: Ensembl
  14. nitric oxide metabolic process Source: BHF-UCL
  15. positive regulation of vasodilation Source: BHF-UCL
  16. response to amine Source: Ensembl
  17. response to amino acid Source: Ensembl
  18. response to dexamethasone Source: Ensembl
  19. response to drug Source: Ensembl
  20. response to food Source: Ensembl
  21. response to growth hormone Source: Ensembl
  22. response to lipopolysaccharide Source: UniProtKB
  23. response to starvation Source: Ensembl
  24. response to toxic substance Source: Ensembl
  25. response to zinc ion Source: Ensembl
  26. small molecule metabolic process Source: Reactome
  27. triglyceride catabolic process Source: BHF-UCL
  28. urea cycle Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Ligase

Keywords - Biological processi

Urea cycle

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS00415-MONOMER.
BRENDAi6.3.4.16. 2681.
ReactomeiREACT_847. Urea cycle.
SABIO-RKP31327.

Protein family/group databases

MEROPSiC26.951.

Names & Taxonomyi

Protein namesi
Recommended name:
Carbamoyl-phosphate synthase [ammonia], mitochondrial (EC:6.3.4.16)
Alternative name(s):
Carbamoyl-phosphate synthetase I
Short name:
CPSase I
Gene namesi
Name:CPS1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:2323. CPS1.

Subcellular locationi

Mitochondrion 1 Publication. Nucleusnucleolus 1 Publication

GO - Cellular componenti

  1. mitochondrial inner membrane Source: Ensembl
  2. mitochondrial matrix Source: Reactome
  3. mitochondrial nucleoid Source: BHF-UCL
  4. nucleus Source: UniProtKB-KW
  5. protein complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.11 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti43 – 431A → V in CPS1D. 1 Publication
VAR_066171
Natural varianti58 – 581G → D in CPS1D. 1 Publication
VAR_066172
Natural varianti65 – 651S → F in CPS1D. 1 Publication
VAR_066173
Natural varianti71 – 711V → G in CPS1D. 1 Publication
VAR_066174
Natural varianti79 – 791G → E in CPS1D. 1 Publication
VAR_063560
Natural varianti87 – 871P → S in CPS1D. 1 Publication
VAR_066175
Natural varianti89 – 891Y → D in CPS1D. 1 Publication
VAR_066176
Natural varianti123 – 1231S → F in CPS1D; modestly decreases enzyme activity. 1 Publication
VAR_064062
Natural varianti165 – 1651D → G in CPS1D. 1 Publication
VAR_066177
Natural varianti212 – 2121Y → N in CPS1D. 1 Publication
VAR_063561
Natural varianti224 – 2241D → V in CPS1D. 1 Publication
VAR_066178
Natural varianti233 – 2331R → C in CPS1D. 1 Publication
VAR_066179
Natural varianti243 – 2431H → P in CPS1D. 1 Publication
VAR_066180
Natural varianti258 – 2581G → E in CPS1D. 1 Publication
VAR_066181
Natural varianti263 – 2631G → E in CPS1D. 1 Publication
VAR_066182
Natural varianti280 – 2801K → N in CPS1D. 1 Publication
VAR_063562
Natural varianti301 – 3011G → E in CPS1D. 1 Publication
VAR_066104
Natural varianti304 – 3041A → V in CPS1D; associated with T-986. 1 Publication
VAR_066183
Natural varianti317 – 3171G → E in CPS1D. 1 Publication
VAR_066184
Natural varianti337 – 3371H → R in CPS1D; modestly decreases enzyme activity. 2 Publications
Corresponds to variant rs28940283 [ dbSNP | Ensembl ].
VAR_014077
Natural varianti358 – 3581D → H in CPS1D. 1 Publication
VAR_066185
Natural varianti382 – 3821P → L in CPS1D. 1 Publication
VAR_066186
Natural varianti389 – 3891Y → C in CPS1D. 1 Publication
VAR_066105
Natural varianti390 – 3901L → R in CPS1D. 1 Publication
VAR_066106
Natural varianti401 – 4011G → R in CPS1D. 1 Publication
VAR_066187
Natural varianti431 – 4311G → R in CPS1D. 1 Publication
VAR_066188
Natural varianti432 – 4321G → V in CPS1D. 1 Publication
VAR_066189
Natural varianti438 – 4381A → P in CPS1D. 1 Publication
VAR_063563
Natural varianti438 – 4381A → T in CPS1D. 1 Publication
VAR_066190
Natural varianti450 – 4501K → E in CPS1D. 1 Publication
VAR_066191
Natural varianti457 – 4571V → G in CPS1D. 1 Publication
VAR_017562
Natural varianti471 – 4711T → N in CPS1D. 1 Publication
VAR_064063
Natural varianti498 – 4981A → P in CPS1D. 1 Publication
VAR_066192
Natural varianti531 – 5311V → E in CPS1D. 1 Publication
VAR_066193
Natural varianti531 – 5311V → G in CPS1D. 1 Publication
VAR_066194
Natural varianti544 – 5441T → M in CPS1D. 2 Publications
VAR_006835
Natural varianti587 – 5871R → C in CPS1D. 1 Publication
VAR_066195
Natural varianti587 – 5871R → H in CPS1D. 2 Publications
VAR_063564
Natural varianti587 – 5871R → L in CPS1D. 1 Publication
VAR_066196
Natural varianti589 – 5891A → T in CPS1D. 1 Publication
VAR_066142
Natural varianti593 – 5931G → R in CPS1D. 1 Publication
VAR_063565
Natural varianti597 – 5971S → L in CPS1D. 1 Publication
VAR_066197
Natural varianti622 – 6221V → M in CPS1D. 1 Publication
VAR_066198
Natural varianti628 – 6281G → D in CPS1D. 1 Publication
VAR_066199
Natural varianti632 – 6321I → R in CPS1D. 1 Publication
VAR_066200
Natural varianti638 – 6381R → P in CPS1D. 1 Publication
VAR_066201
Natural varianti640 – 6401A → S in CPS1D. 1 Publication
Corresponds to variant rs142693704 [ dbSNP | Ensembl ].
VAR_066143
Natural varianti648 – 6481C → Y in CPS1D. 1 Publication
VAR_066202
Natural varianti651 – 6511E → K in CPS1D. 1 Publication
VAR_063566
Natural varianti654 – 6541D → V in CPS1D. 1 Publication
VAR_066203
Natural varianti674 – 6741N → I in CPS1D. 1 Publication
VAR_063567
Natural varianti674 – 6741N → K in CPS1D. 1 Publication
VAR_066204
Natural varianti678 – 6781Q → P in CPS1D; results in a poor enzyme expression and solubility; hampers correct enzyme folding. 1 Publication
VAR_064064
Natural varianti698 – 6981N → S in CPS1D. 1 Publication
VAR_066205
Natural varianti716 – 7161N → K in CPS1D. 1 Publication
VAR_066144
Natural varianti718 – 7181R → K in CPS1D. 1 Publication
VAR_066107
Natural varianti721 – 7211R → Q in CPS1D. 1 Publication
VAR_066108
Natural varianti724 – 7241A → P in CPS1D. 1 Publication
VAR_066109
Natural varianti726 – 7261A → T in CPS1D. 1 Publication
VAR_066110
Natural varianti767 – 7671D → V in CPS1D. 1 Publication
VAR_066111
Natural varianti774 – 7741P → L in CPS1D; the enzyme is inactive. 1 Publication
VAR_064065
Natural varianti780 – 7801R → H in CPS1D. 2 Publications
VAR_063568
Natural varianti792 – 7921M → I in CPS1D. 1 Publication
VAR_066112
Natural varianti803 – 8031R → C in CPS1D. 1 Publication
VAR_066145
Natural varianti803 – 8031R → G in CPS1D. 1 Publication
VAR_066146
Natural varianti803 – 8031R → S in CPS1D. 1 Publication
VAR_066147
Natural varianti805 – 8051F → L in CPS1D. 1 Publication
VAR_066148
Natural varianti805 – 8051F → S in CPS1D. 1 Publication
VAR_066149
Natural varianti810 – 8101Q → R in CPS1D. 1 Publication
VAR_017563
Natural varianti814 – 8141R → W in CPS1D. 1 Publication
VAR_066150
Natural varianti816 – 8161C → R in CPS1D. 1 Publication
VAR_066151
Natural varianti843 – 8431L → S in CPS1D. 2 Publications
VAR_017564
Natural varianti850 – 8501R → C in CPS1D. 1 Publication
VAR_063569
Natural varianti850 – 8501R → H in CPS1D. 2 Publications
VAR_030675
Natural varianti875 – 8751K → E in CPS1D. 2 Publications
Corresponds to variant rs147062907 [ dbSNP | Ensembl ].
VAR_017565
Natural varianti911 – 9111G → E in CPS1D. 1 Publication
VAR_066152
Natural varianti911 – 9111G → V in CPS1D. 1 Publication
VAR_066153
Natural varianti913 – 9131S → L in CPS1D. 1 Publication
VAR_066154
Natural varianti914 – 9141D → G in CPS1D. 1 Publication
VAR_066155
Natural varianti914 – 9141D → H in CPS1D. 1 Publication
VAR_066156
Natural varianti918 – 9181S → P in CPS1D. 1 Publication
VAR_030676
Natural varianti932 – 9321R → T in CPS1D. 1 Publication
VAR_066157
Natural varianti949 – 9491A → T in CPS1D. 1 Publication
VAR_066158
Natural varianti958 – 9581L → P in CPS1D. 1 Publication
VAR_066159
Natural varianti959 – 9591Y → C in CPS1D. 1 Publication
VAR_066160
Natural varianti962 – 9621Y → C in CPS1D. 1 Publication
VAR_066161
Natural varianti978 – 9781V → E in CPS1D. 1 Publication
VAR_066113
Natural varianti982 – 9821G → D in CPS1D. 1 Publication
VAR_063570
Natural varianti982 – 9821G → S in CPS1D. 1 Publication
VAR_066162
Natural varianti982 – 9821G → V in CPS1D. 1 Publication
VAR_066114
Natural varianti984 – 9841Y → H in CPS1D. 1 Publication
VAR_066115
Natural varianti986 – 9861I → T in CPS1D; associated with V-304. 1 Publication
VAR_066116
Natural varianti987 – 9871G → C in CPS1D; may affect splicing. 1 Publication
VAR_066117
Natural varianti992 – 9921F → S in CPS1D. 1 Publication
VAR_066118
Natural varianti998 – 9981S → F in CPS1D. 1 Publication
VAR_066163
Natural varianti1016 – 10161N → S in CPS1D. 1 Publication
VAR_066119
Natural varianti1017 – 10171P → L in CPS1D. 1 Publication
VAR_066120
Natural varianti1022 – 10221T → I in CPS1D. 1 Publication
VAR_066121
Natural varianti1034 – 10341E → G in CPS1D. 1 Publication
VAR_066122
Natural varianti1045 – 10451H → R in CPS1D. 1 Publication
VAR_066123
Natural varianti1054 – 10541I → R in CPS1D. 1 Publication
VAR_066164
Natural varianti1059 – 10591Q → R in CPS1D. 1 Publication
VAR_066124
Natural varianti1065 – 10651A → E in CPS1D. 1 Publication
VAR_066125
Natural varianti1089 – 10891R → C in CPS1D. 1 Publication
VAR_066126
Natural varianti1089 – 10891R → L in CPS1D. 1 Publication
VAR_066165
Natural varianti1103 – 11031Q → R in CPS1D. 1 Publication
VAR_063571
Natural varianti1141 – 11411V → G in CPS1D. 1 Publication
VAR_063572
Natural varianti1155 – 11551A → E in CPS1D. 1 Publication
VAR_066127
Natural varianti1155 – 11551A → V in CPS1D. 1 Publication
VAR_066128
Natural varianti1195 – 11951H → P in CPS1D. 1 Publication
VAR_063573
Natural varianti1203 – 12031S → L in CPS1D. 1 Publication
VAR_066129
Natural varianti1203 – 12031S → P in CPS1D. 1 Publication
VAR_066166
Natural varianti1205 – 12051D → N in CPS1D. 1 Publication
VAR_066167
Natural varianti1215 – 12151I → V in CPS1D. 1 Publication
Corresponds to variant rs141373204 [ dbSNP | Ensembl ].
VAR_063574
Natural varianti1228 – 12281R → Q in CPS1D. 1 Publication
VAR_066130
Natural varianti1241 – 12411N → K in CPS1D. 1 Publication
VAR_063575
Natural varianti1255 – 12551E → D in CPS1D. 1 Publication
VAR_066131
Natural varianti1262 – 12621R → P in CPS1D. 1 Publication
VAR_066132
Natural varianti1262 – 12621R → Q in CPS1D. 1 Publication
VAR_066133
Natural varianti1274 – 12741D → H in CPS1D. 1 Publication
VAR_066134
Natural varianti1327 – 13271C → R in CPS1D. 1 Publication
VAR_066135
Natural varianti1331 – 13311S → P in CPS1D. 1 Publication
VAR_066168
Natural varianti1333 – 13331G → E in CPS1D. 1 Publication
VAR_066136
Natural varianti1371 – 13711R → L in CPS1D. 1 Publication
VAR_066137
Natural varianti1378 – 13781A → T in CPS1D. 1 Publication
VAR_066169
Natural varianti1391 – 13911T → M in CPS1D. 1 Publication
VAR_066138
Natural varianti1398 – 13981L → V in CPS1D. 1 Publication
VAR_066139
Natural varianti1411 – 14111P → L in CPS1D; modestly decreases enzyme activity. 2 Publications
VAR_064066
Natural varianti1439 – 14391P → L in CPS1D. 1 Publication
VAR_066140
Natural varianti1443 – 14431T → A in CPS1D. 1 Publication
VAR_066170
Natural varianti1453 – 14531R → Q in CPS1D; the enzyme is inactive. 1 Publication
VAR_064067
Natural varianti1453 – 14531R → W in CPS1D; the enzyme is inactive. 2 Publications
VAR_064068
Natural varianti1462 – 14621P → R in CPS1D. 1 Publication
VAR_066141
Natural varianti1491 – 14911Y → H in CPS1D; triggers a large decrease in the apparent affinity for N-acetyl-L-glutamate (NAG). 1 Publication
VAR_064069
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.1 Publication
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).1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti530 – 5301G → V Found in a patient with VACTERL syndrome and postsurgical PHN; variant of unknown pathological significance. 1 Publication
VAR_070211
Natural varianti1406 – 14061T → N Associated with PHN susceptibility; 30-40% higher activity; also highly associated with hepatocellular carcinoma (HCC) progression. 7 Publications
Corresponds to variant rs1047891 [ dbSNP | Ensembl ].
VAR_017569

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi237300. phenotype.
615371. phenotype.
Orphaneti147. Carbamoyl-phosphate synthase deficiency.
PharmGKBiPA26840.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3838MitochondrionBy similarityAdd
BLAST
Chaini39 – 15001462Carbamoyl-phosphate synthase [ammonia], mitochondrialPRO_0000029897Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei55 – 551N6-acetyllysine; alternateBy similarity
Modified residuei55 – 551N6-succinyllysine; alternateBy similarity
Modified residuei57 – 571N6-acetyllysine; alternateBy similarity
Modified residuei57 – 571N6-succinyllysine; alternateBy similarity
Modified residuei119 – 1191N6-acetyllysine; alternateBy similarity
Modified residuei119 – 1191N6-succinyllysine; alternateBy similarity
Modified residuei157 – 1571N6-acetyllysine; alternateBy similarity
Modified residuei157 – 1571N6-succinyllysine; alternateBy similarity
Modified residuei171 – 1711N6-acetyllysineBy similarity
Modified residuei182 – 1821N6-acetyllysineBy similarity
Modified residuei197 – 1971N6-acetyllysineBy similarity
Modified residuei207 – 2071N6-acetyllysine; alternateBy similarity
Modified residuei207 – 2071N6-succinyllysine; alternateBy similarity
Modified residuei210 – 2101N6-acetyllysineBy similarity
Modified residuei214 – 2141N6-acetyllysine; alternateBy similarity
Modified residuei214 – 2141N6-succinyllysine; alternateBy similarity
Modified residuei219 – 2191N6-acetyllysineBy similarity
Modified residuei228 – 2281N6-acetyllysineBy similarity
Modified residuei280 – 2801N6-acetyllysineBy similarity
Modified residuei287 – 2871N6-acetyllysine; alternateBy similarity
Modified residuei287 – 2871N6-succinyllysine; alternateBy similarity
Modified residuei307 – 3071N6-acetyllysine; alternateBy similarity
Modified residuei307 – 3071N6-succinyllysine; alternateBy similarity
Modified residuei310 – 3101N6-acetyllysineBy similarity
Modified residuei400 – 4001N6-succinyllysineBy similarity
Modified residuei402 – 4021N6-succinyllysineBy similarity
Modified residuei412 – 4121N6-acetyllysine; alternateBy similarity
Modified residuei412 – 4121N6-succinyllysine; alternateBy similarity
Modified residuei453 – 4531N6-acetyllysineBy similarity
Modified residuei458 – 4581N6-acetyllysine; alternateBy similarity
Modified residuei458 – 4581N6-succinyllysine; alternateBy similarity
Modified residuei522 – 5221N6-acetyllysine; alternateBy similarity
Modified residuei522 – 5221N6-succinyllysine; alternateBy similarity
Modified residuei527 – 5271N6-acetyllysine; alternateBy similarity
Modified residuei527 – 5271N6-succinyllysine; alternateBy similarity
Modified residuei532 – 5321N6-acetyllysineBy similarity
Modified residuei537 – 5371PhosphoserineBy similarity
Glycosylationi537 – 5371O-linked (GlcNAc)By similarity
Modified residuei553 – 5531N6-acetyllysine; alternateBy similarity
Modified residuei553 – 5531N6-succinyllysine; alternateBy similarity
Modified residuei560 – 5601N6-acetyllysine; alternateBy similarity
Modified residuei560 – 5601N6-succinyllysine; alternateBy similarity
Modified residuei575 – 5751N6-acetyllysine; alternateBy similarity
Modified residuei575 – 5751N6-succinyllysine; alternateBy similarity
Modified residuei612 – 6121N6-acetyllysine; alternateBy similarity
Modified residuei612 – 6121N6-succinyllysine; alternateBy similarity
Modified residuei630 – 6301N6-acetyllysineBy similarity
Modified residuei751 – 7511N6-acetyllysine; alternateBy similarity
Modified residuei751 – 7511N6-succinyllysine; alternateBy similarity
Modified residuei757 – 7571N6-acetyllysine; alternateBy similarity
Modified residuei757 – 7571N6-succinyllysine; alternateBy similarity
Modified residuei772 – 7721N6-acetyllysineBy similarity
Modified residuei793 – 7931N6-acetyllysine; alternateBy similarity
Modified residuei793 – 7931N6-succinyllysine; alternateBy similarity
Modified residuei811 – 8111N6-acetyllysineBy similarity
Modified residuei831 – 8311N6-acetyllysine; alternateBy similarity
Modified residuei831 – 8311N6-succinyllysine; alternateBy similarity
Modified residuei841 – 8411N6-acetyllysineBy similarity
Modified residuei856 – 8561N6-acetyllysineBy similarity
Modified residuei875 – 8751N6-acetyllysine; alternateBy similarity
Modified residuei875 – 8751N6-succinyllysine; alternateBy similarity
Modified residuei889 – 8891N6-acetyllysine; alternateBy similarity
Modified residuei889 – 8891N6-succinyllysine; alternateBy similarity
Modified residuei892 – 8921N6-acetyllysine; alternateBy similarity
Modified residuei892 – 8921N6-succinyllysine; alternateBy similarity
Modified residuei908 – 9081N6-acetyllysineBy similarity
Modified residuei915 – 9151N6-acetyllysine; alternateBy similarity
Modified residuei915 – 9151N6-succinyllysine; alternateBy similarity
Modified residuei919 – 9191N6-acetyllysine; alternateBy similarity
Modified residuei919 – 9191N6-succinyllysine; alternateBy similarity
Modified residuei935 – 9351N6-acetyllysineBy similarity
Modified residuei1074 – 10741N6-acetyllysine; alternateBy similarity
Modified residuei1074 – 10741N6-succinyllysine; alternateBy similarity
Modified residuei1079 – 10791PhosphoserineBy similarity
Modified residuei1100 – 11001N6-acetyllysine; alternateBy similarity
Modified residuei1100 – 11001N6-succinyllysine; alternateBy similarity
Modified residuei1149 – 11491N6-succinyllysineBy similarity
Modified residuei1168 – 11681N6-acetyllysine; alternateBy similarity
Modified residuei1168 – 11681N6-succinyllysine; alternateBy similarity
Modified residuei1183 – 11831N6-acetyllysine; alternateBy similarity
Modified residuei1183 – 11831N6-succinyllysine; alternateBy similarity
Modified residuei1222 – 12221N6-acetyllysineBy similarity
Modified residuei1232 – 12321N6-acetyllysine; alternateBy similarity
Modified residuei1232 – 12321N6-succinyllysine; alternateBy similarity
Modified residuei1269 – 12691N6-acetyllysine; alternateBy similarity
Modified residuei1269 – 12691N6-succinyllysine; alternateBy similarity
Modified residuei1291 – 12911N6-acetyllysine; alternateBy similarity
Modified residuei1291 – 12911N6-succinyllysine; alternateBy similarity
Glycosylationi1331 – 13311O-linked (GlcNAc)By similarity
Glycosylationi1332 – 13321O-linked (GlcNAc)By similarity
Modified residuei1356 – 13561N6-acetyllysine; alternateBy similarity
Modified residuei1356 – 13561N6-succinyllysine; alternateBy similarity
Modified residuei1360 – 13601N6-succinyllysineBy similarity
Modified residuei1444 – 14441N6-acetyllysine; alternateBy similarity
Modified residuei1444 – 14441N6-succinyllysine; alternateBy similarity
Modified residuei1471 – 14711N6-acetyllysine; alternateBy similarity
Modified residuei1471 – 14711N6-succinyllysine; alternateBy similarity
Modified residuei1479 – 14791N6-acetyllysine; alternateBy similarity
Modified residuei1479 – 14791N6-succinyllysine; alternateBy similarity
Modified residuei1486 – 14861N6-acetyllysine; alternateBy similarity
Modified residuei1486 – 14861N6-succinyllysine; alternateBy similarity

Post-translational modificationi

Succinylated at Lys-287 and Lys-1291. Desuccinylated at Lys-1291 by SIRT5, leading to activation (By similarity).By similarity

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiP31327.
PaxDbiP31327.
PRIDEiP31327.

PTM databases

PhosphoSiteiP31327.

Expressioni

Tissue specificityi

Primarily in the liver and small intestine.

Gene expression databases

BgeeiP31327.
CleanExiHS_CPS1.
ExpressionAtlasiP31327. baseline and differential.
GenevestigatoriP31327.

Organism-specific databases

HPAiCAB003781.
HPA021400.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
ARAFP103983EBI-536811,EBI-365961
RAF1P040494EBI-536811,EBI-365996
YWHAZP631042EBI-536811,EBI-347088

Protein-protein interaction databases

BioGridi107764. 27 interactions.
IntActiP31327. 7 interactions.
MINTiMINT-4991575.
STRINGi9606.ENSP00000402608.

Structurei

Secondary structure

1
1500
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi1344 – 13507
Beta strandi1360 – 13656
Helixi1368 – 13703
Helixi1371 – 138212
Turni1383 – 13853
Beta strandi1387 – 13915
Helixi1392 – 14009
Beta strandi1406 – 14083
Helixi1411 – 14133
Helixi1423 – 14286
Beta strandi1434 – 14374
Helixi1443 – 14453
Helixi1446 – 145813
Helixi1467 – 14759

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2YVQX-ray1.98A1343-1478[»]
ProteinModelPortaliP31327.
SMRiP31327. Positions 44-404, 557-798, 996-1341, 1343-1478.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP31327.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini219 – 404186Glutamine amidotransferase type-1Add
BLAST
Domaini551 – 743193ATP-grasp 1Add
BLAST
Domaini1093 – 1284192ATP-grasp 2Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni39 – 218180Anthranilate phosphoribosyltransferase homologAdd
BLAST

Domaini

The type-1 glutamine amidotransferase domain is defective.

Sequence similaritiesi

Contains 2 ATP-grasp domains.Curated

Keywords - Domaini

Repeat, Transit peptide

Phylogenomic databases

eggNOGiCOG0458.
GeneTreeiENSGT00390000015604.
HOGENOMiHOG000234583.
HOVERGENiHBG000279.
InParanoidiP31327.
KOiK01948.
OMAiGSDRIWY.
OrthoDBiEOG7M6D6F.
PhylomeDBiP31327.
TreeFamiTF331485.

Family and domain databases

Gene3Di1.10.1030.10. 1 hit.
3.30.1490.20. 2 hits.
3.30.470.20. 2 hits.
3.40.50.1380. 1 hit.
3.40.50.20. 2 hits.
3.40.50.880. 1 hit.
3.50.30.20. 1 hit.
HAMAPiMF_01209. CPSase_S_chain.
InterProiIPR011761. ATP-grasp.
IPR013815. ATP_grasp_subdomain_1.
IPR013816. ATP_grasp_subdomain_2.
IPR006275. CarbamoylP_synth_lsu.
IPR005481. CarbamoylP_synth_lsu_N.
IPR005480. CarbamoylP_synth_lsu_oligo.
IPR006274. CarbamoylP_synth_ssu.
IPR002474. CarbamoylP_synth_ssu_N.
IPR005479. CbamoylP_synth_lsu-like_ATP-bd.
IPR005483. CbamoylP_synth_lsu_CPSase_dom.
IPR029062. Class_I_gatase-like.
IPR017926. GATASE.
IPR011607. MGS-like_dom.
IPR016185. PreATP-grasp_dom.
[Graphical view]
PfamiPF00289. CPSase_L_chain. 2 hits.
PF02786. CPSase_L_D2. 2 hits.
PF02787. CPSase_L_D3. 1 hit.
PF00988. CPSase_sm_chain. 1 hit.
PF00117. GATase. 1 hit.
PF02142. MGS. 1 hit.
[Graphical view]
PRINTSiPR00098. CPSASE.
SMARTiSM01096. CPSase_L_D3. 1 hit.
SM01097. CPSase_sm_chain. 1 hit.
SM00851. MGS. 1 hit.
[Graphical view]
SUPFAMiSSF48108. SSF48108. 1 hit.
SSF52021. SSF52021. 1 hit.
SSF52317. SSF52317. 1 hit.
SSF52335. SSF52335. 1 hit.
SSF52440. SSF52440. 2 hits.
TIGRFAMsiTIGR01369. CPSaseII_lrg. 1 hit.
TIGR01368. CPSaseIIsmall. 1 hit.
PROSITEiPS50975. ATP_GRASP. 2 hits.
PS00866. CPSASE_1. 2 hits.
PS00867. CPSASE_2. 2 hits.
PS51273. GATASE_TYPE_1. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P31327) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MTRILTAFKV VRTLKTGFGF TNVTAHQKWK FSRPGIRLLS VKAQTAHIVL
60 70 80 90 100
EDGTKMKGYS FGHPSSVAGE VVFNTGLGGY PEAITDPAYK GQILTMANPI
110 120 130 140 150
IGNGGAPDTT ALDELGLSKY LESNGIKVSG LLVLDYSKDY NHWLATKSLG
160 170 180 190 200
QWLQEEKVPA IYGVDTRMLT KIIRDKGTML GKIEFEGQPV DFVDPNKQNL
210 220 230 240 250
IAEVSTKDVK VYGKGNPTKV VAVDCGIKNN VIRLLVKRGA EVHLVPWNHD
260 270 280 290 300
FTKMEYDGIL IAGGPGNPAL AEPLIQNVRK ILESDRKEPL FGISTGNLIT
310 320 330 340 350
GLAAGAKTYK MSMANRGQNQ PVLNITNKQA FITAQNHGYA LDNTLPAGWK
360 370 380 390 400
PLFVNVNDQT NEGIMHESKP FFAVQFHPEV TPGPIDTEYL FDSFFSLIKK
410 420 430 440 450
GKATTITSVL PKPALVASRV EVSKVLILGS GGLSIGQAGE FDYSGSQAVK
460 470 480 490 500
AMKEENVKTV LMNPNIASVQ TNEVGLKQAD TVYFLPITPQ FVTEVIKAEQ
510 520 530 540 550
PDGLILGMGG QTALNCGVEL FKRGVLKEYG VKVLGTSVES IMATEDRQLF
560 570 580 590 600
SDKLNEINEK IAPSFAVESI EDALKAADTI GYPVMIRSAY ALGGLGSGIC
610 620 630 640 650
PNRETLMDLS TKAFAMTNQI LVEKSVTGWK EIEYEVVRDA DDNCVTVCNM
660 670 680 690 700
ENVDAMGVHT GDSVVVAPAQ TLSNAEFQML RRTSINVVRH LGIVGECNIQ
710 720 730 740 750
FALHPTSMEY CIIEVNARLS RSSALASKAT GYPLAFIAAK IALGIPLPEI
760 770 780 790 800
KNVVSGKTSA CFEPSLDYMV TKIPRWDLDR FHGTSSRIGS SMKSVGEVMA
810 820 830 840 850
IGRTFEESFQ KALRMCHPSI EGFTPRLPMN KEWPSNLDLR KELSEPSSTR
860 870 880 890 900
IYAIAKAIDD NMSLDEIEKL TYIDKWFLYK MRDILNMEKT LKGLNSESMT
910 920 930 940 950
EETLKRAKEI GFSDKQISKC LGLTEAQTRE LRLKKNIHPW VKQIDTLAAE
960 970 980 990 1000
YPSVTNYLYV TYNGQEHDVN FDDHGMMVLG CGPYHIGSSV EFDWCAVSSI
1010 1020 1030 1040 1050
RTLRQLGKKT VVVNCNPETV STDFDECDKL YFEELSLERI LDIYHQEACG
1060 1070 1080 1090 1100
GCIISVGGQI PNNLAVPLYK NGVKIMGTSP LQIDRAEDRS IFSAVLDELK
1110 1120 1130 1140 1150
VAQAPWKAVN TLNEALEFAK SVDYPCLLRP SYVLSGSAMN VVFSEDEMKK
1160 1170 1180 1190 1200
FLEEATRVSQ EHPVVLTKFV EGAREVEMDA VGKDGRVISH AISEHVEDAG
1210 1220 1230 1240 1250
VHSGDATLML PTQTISQGAI EKVKDATRKI AKAFAISGPF NVQFLVKGND
1260 1270 1280 1290 1300
VLVIECNLRA SRSFPFVSKT LGVDFIDVAT KVMIGENVDE KHLPTLDHPI
1310 1320 1330 1340 1350
IPADYVAIKA PMFSWPRLRD ADPILRCEMA STGEVACFGE GIHTAFLKAM
1360 1370 1380 1390 1400
LSTGFKIPQK GILIGIQQSF RPRFLGVAEQ LHNEGFKLFA TEATSDWLNA
1410 1420 1430 1440 1450
NNVPATPVAW PSQEGQNPSL SSIRKLIRDG SIDLVINLPN NNTKFVHDNY
1460 1470 1480 1490 1500
VIRRTAVDSG IPLLTNFQVT KLFAEAVQKS RKVDSKSLFH YRQYSAGKAA
Length:1,500
Mass (Da):164,939
Last modified:December 15, 1998 - v2
Checksum:iE53A22D77563961D
GO
Isoform 2 (identifier: P31327-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-451: Missing.

Show »
Length:1,049
Mass (Da):116,038
Checksum:i74C9ABBFABAD2AD2
GO
Isoform 3 (identifier: P31327-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MPQIIKM

Show »
Length:1,506
Mass (Da):165,650
Checksum:i35B58EDD104A9503
GO

Sequence cautioni

The sequence BAD92037.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti111 – 1111A → S in BAA14328. (PubMed:1840546)Curated
Sequence conflicti279 – 2791R → Q in BAA14328. (PubMed:1840546)Curated
Sequence conflicti338 – 3381G → C in BAA14328. (PubMed:1840546)Curated
Sequence conflicti718 – 7225RLSRS → KMSPN in BAA14328. (PubMed:1840546)Curated
Sequence conflicti729 – 7291A → T in BAA14328. (PubMed:1840546)Curated
Sequence conflicti749 – 7491E → G in BAA14328. (PubMed:1840546)Curated
Sequence conflicti912 – 9121F → L in CAE45707. (PubMed:12655559)Curated
Sequence conflicti1161 – 11622EH → AT in BAA14328. (PubMed:1840546)Curated
Sequence conflicti1204 – 12052GD → EN in BAA14328. (PubMed:1840546)Curated
Sequence conflicti1254 – 12541I → N in BAA14328. (PubMed:1840546)Curated
Sequence conflicti1303 – 13031A → V in BAA14328. (PubMed:1840546)Curated
Isoform 3 (identifier: P31327-3)
Sequence conflicti5 – 51I → IF in BAD92037. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti43 – 431A → V in CPS1D. 1 Publication
VAR_066171
Natural varianti58 – 581G → D in CPS1D. 1 Publication
VAR_066172
Natural varianti65 – 651S → F in CPS1D. 1 Publication
VAR_066173
Natural varianti71 – 711V → G in CPS1D. 1 Publication
VAR_066174
Natural varianti79 – 791G → E in CPS1D. 1 Publication
VAR_063560
Natural varianti87 – 871P → S in CPS1D. 1 Publication
VAR_066175
Natural varianti89 – 891Y → D in CPS1D. 1 Publication
VAR_066176
Natural varianti123 – 1231S → F in CPS1D; modestly decreases enzyme activity. 1 Publication
VAR_064062
Natural varianti165 – 1651D → G in CPS1D. 1 Publication
VAR_066177
Natural varianti212 – 2121Y → N in CPS1D. 1 Publication
VAR_063561
Natural varianti224 – 2241D → V in CPS1D. 1 Publication
VAR_066178
Natural varianti233 – 2331R → C in CPS1D. 1 Publication
VAR_066179
Natural varianti243 – 2431H → P in CPS1D. 1 Publication
VAR_066180
Natural varianti258 – 2581G → E in CPS1D. 1 Publication
VAR_066181
Natural varianti263 – 2631G → E in CPS1D. 1 Publication
VAR_066182
Natural varianti280 – 2801K → N in CPS1D. 1 Publication
VAR_063562
Natural varianti301 – 3011G → E in CPS1D. 1 Publication
VAR_066104
Natural varianti304 – 3041A → V in CPS1D; associated with T-986. 1 Publication
VAR_066183
Natural varianti317 – 3171G → E in CPS1D. 1 Publication
VAR_066184
Natural varianti337 – 3371H → R in CPS1D; modestly decreases enzyme activity. 2 Publications
Corresponds to variant rs28940283 [ dbSNP | Ensembl ].
VAR_014077
Natural varianti344 – 3441T → A.3 Publications
Corresponds to variant rs1047883 [ dbSNP | Ensembl ].
VAR_006834
Natural varianti344 – 3441T → S.
Corresponds to variant rs1047883 [ dbSNP | Ensembl ].
VAR_061752
Natural varianti358 – 3581D → H in CPS1D. 1 Publication
VAR_066185
Natural varianti382 – 3821P → L in CPS1D. 1 Publication
VAR_066186
Natural varianti389 – 3891Y → C in CPS1D. 1 Publication