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P31327

- CPSM_HUMAN

UniProt

P31327 - CPSM_HUMAN

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
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    • History
      Entry version 172 (01 Oct 2014)
      Sequence version 2 (15 Dec 1998)
      Previous versions | rss
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    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
    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

    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. nucleolus Source: UniProtKB-SubCell
    5. protein complex Source: Ensembl

    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. Carbamoylphosphate synthetase 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

    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

    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.
    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.

    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
    VAR_066105
    Natural varianti390 – 3901L → R in CPS1D. 1 Publication