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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.UniRule annotation

Catalytic activityi

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

Enzyme regulationi

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

Sites

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

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
  8. protein binding Source: IntAct

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. Nucleusnucleolus 1 Publication

GO - Cellular componenti

  1. mitochondrial inner membrane Source: Ensembl
  2. mitochondrial matrix Source: Reactome
  3. mitochondrial nucleoid Source: BHF-UCL
  4. nucleolus Source: UniProtKB-SubCell
  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.
Note: The disease is caused by mutations affecting the gene represented in this entry.11 Publications
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.
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 (1 Publication).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. Carbamoylphosphate synthetase deficiency.
PharmGKBiPA26840.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3838Mitochondrion By similarity
Add
BLAST
Chaini39 – 15001462Carbamoyl-phosphate synthase [ammonia], mitochondrialUniRule annotation
PRO_0000029897Add
BLAST

Amino acid modifications

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

Post-translational modificationi

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

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

ArrayExpressiP31327.
BgeeiP31327.
CleanExiHS_CPS1.
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. 23 interactions.
IntActiP31327. 7 interactions.
MINTiMINT-4991575.
STRINGi9606.ENSP00000402608.

Structurei

Secondary structure

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.

Miscellaneous databases

EvolutionaryTraceiP31327.

Family & Domainsi

Domains and Repeats

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

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni39 – 218180Anthranilate phosphoribosyltransferase homologUniRule annotation
Add
BLAST

Domaini

The type-1 glutamine amidotransferase domain is defective.UniRule annotation

Sequence similaritiesi

Contains 2 ATP-grasp domains.

Keywords - Domaini

Repeat, Transit peptide

Phylogenomic databases

eggNOGiCOG0458.
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: P31327-1) [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

MTRILTAFKV VRTLKTGFGF TNVTAHQKWK FSRPGIRLLS VKAQTAHIVL     50
EDGTKMKGYS FGHPSSVAGE VVFNTGLGGY PEAITDPAYK GQILTMANPI 100
IGNGGAPDTT ALDELGLSKY LESNGIKVSG LLVLDYSKDY NHWLATKSLG 150
QWLQEEKVPA IYGVDTRMLT KIIRDKGTML GKIEFEGQPV DFVDPNKQNL 200
IAEVSTKDVK VYGKGNPTKV VAVDCGIKNN VIRLLVKRGA EVHLVPWNHD 250
FTKMEYDGIL IAGGPGNPAL AEPLIQNVRK ILESDRKEPL FGISTGNLIT 300
GLAAGAKTYK MSMANRGQNQ PVLNITNKQA FITAQNHGYA LDNTLPAGWK 350
PLFVNVNDQT NEGIMHESKP FFAVQFHPEV TPGPIDTEYL FDSFFSLIKK 400
GKATTITSVL PKPALVASRV EVSKVLILGS GGLSIGQAGE FDYSGSQAVK 450
AMKEENVKTV LMNPNIASVQ TNEVGLKQAD TVYFLPITPQ FVTEVIKAEQ 500
PDGLILGMGG QTALNCGVEL FKRGVLKEYG VKVLGTSVES IMATEDRQLF 550
SDKLNEINEK IAPSFAVESI EDALKAADTI GYPVMIRSAY ALGGLGSGIC 600
PNRETLMDLS TKAFAMTNQI LVEKSVTGWK EIEYEVVRDA DDNCVTVCNM 650
ENVDAMGVHT GDSVVVAPAQ TLSNAEFQML RRTSINVVRH LGIVGECNIQ 700
FALHPTSMEY CIIEVNARLS RSSALASKAT GYPLAFIAAK IALGIPLPEI 750
KNVVSGKTSA CFEPSLDYMV TKIPRWDLDR FHGTSSRIGS SMKSVGEVMA 800
IGRTFEESFQ KALRMCHPSI EGFTPRLPMN KEWPSNLDLR KELSEPSSTR 850
IYAIAKAIDD NMSLDEIEKL TYIDKWFLYK MRDILNMEKT LKGLNSESMT 900
EETLKRAKEI GFSDKQISKC LGLTEAQTRE LRLKKNIHPW VKQIDTLAAE 950
YPSVTNYLYV TYNGQEHDVN FDDHGMMVLG CGPYHIGSSV EFDWCAVSSI 1000
RTLRQLGKKT VVVNCNPETV STDFDECDKL YFEELSLERI LDIYHQEACG 1050
GCIISVGGQI PNNLAVPLYK NGVKIMGTSP LQIDRAEDRS IFSAVLDELK 1100
VAQAPWKAVN TLNEALEFAK SVDYPCLLRP SYVLSGSAMN VVFSEDEMKK 1150
FLEEATRVSQ EHPVVLTKFV EGAREVEMDA VGKDGRVISH AISEHVEDAG 1200
VHSGDATLML PTQTISQGAI EKVKDATRKI AKAFAISGPF NVQFLVKGND 1250
VLVIECNLRA SRSFPFVSKT LGVDFIDVAT KVMIGENVDE KHLPTLDHPI 1300
IPADYVAIKA PMFSWPRLRD ADPILRCEMA STGEVACFGE GIHTAFLKAM 1350
LSTGFKIPQK GILIGIQQSF RPRFLGVAEQ LHNEGFKLFA TEATSDWLNA 1400
NNVPATPVAW PSQEGQNPSL SSIRKLIRDG SIDLVINLPN NNTKFVHDNY 1450
VIRRTAVDSG IPLLTNFQVT KLFAEAVQKS RKVDSKSLFH YRQYSAGKAA 1500
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.

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
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 varianti530 – 5301G → V Found in a patient with VACTERL syndrome and postsurgical PHN; variant of unknown pathological significance. 1 Publication
VAR_070211
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