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Protein

CTP synthase 1

Gene

CTPS1

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

Functioni

This enzyme is involved in the de novo synthesis of CTP, a precursor of DNA, RNA and phospholipids. Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as a source of nitrogen. This enzyme and its product, CTP, play a crucial role in the proliferation of activated lymphocytes and therefore in immunity.2 Publications

Catalytic activityi

ATP + UTP + L-glutamine = ADP + phosphate + CTP + L-glutamate.2 Publications

Enzyme regulationi

Activated by GTP and inhibited by CTP.

Pathwayi: CTP biosynthesis via de novo pathway

This protein is involved in step 2 of the subpathway that synthesizes CTP from UDP.2 Publications
Proteins known to be involved in the 2 steps of the subpathway in this organism are:
  1. no protein annotated in this organism
  2. CTP synthase, CTP synthase 1 (CTPS1), CTP synthase, CTP synthase (CTPS2), CTP synthase 2 (CTPS2)
This subpathway is part of the pathway CTP biosynthesis via de novo pathway, which is itself part of Pyrimidine metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes CTP from UDP, the pathway CTP biosynthesis via de novo pathway and in Pyrimidine metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei399For GATase activityBy similarity1
Active sitei526For GATase activityBy similarity1
Active sitei528For GATase activityBy similarity1

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • CTP synthase activity Source: UniProtKB

GO - Biological processi

  • 'de novo' CTP biosynthetic process Source: UniProtKB-UniPathway
  • B cell proliferation Source: UniProtKB
  • CTP biosynthetic process Source: UniProtKB
  • glutamine metabolic process Source: UniProtKB-KW
  • nucleobase-containing compound metabolic process Source: ProtInc
  • nucleobase-containing small molecule interconversion Source: Reactome
  • response to drug Source: ProtInc
  • T cell proliferation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Ligase

Keywords - Biological processi

Immunity, Pyrimidine biosynthesis

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS10382-MONOMER.
ZFISH:HS10382-MONOMER.
ReactomeiR-HSA-499943. Synthesis and interconversion of nucleotide di- and triphosphates.
SIGNORiP17812.
UniPathwayiUPA00159; UER00277.

Names & Taxonomyi

Protein namesi
Recommended name:
CTP synthase 1Curated (EC:6.3.4.22 Publications)
Alternative name(s):
CTP synthetase 1
UTP--ammonia ligase 1
Gene namesi
Name:CTPS1Imported
Synonyms:CTPSImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:2519. CTPS1.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • membrane Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Immunodeficiency 24 (IMD24)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. A unique and recessive G to C mutation probably affecting a splice donor site at the junction of intron 17-18 and exon 18 has been identified in all patients. It results in expression of an abnormal transcript lacking exon 18 and a complete loss of the expression of the protein.1 Publication
Disease descriptionA life-threatening immunodeficiency, characterized by an impaired capacity of activated T and B cells to proliferate in response to antigen receptor-mediated activation. Patients have early onset of severe chronic viral infections, mostly caused by herpes viruses, including EBV and varicella zooster virus (VZV), and also suffer from recurrent encapsulated bacterial infections, a spectrum of infections typical of a combined deficiency of adaptive immunity.
See also OMIM:615897

Organism-specific databases

DisGeNETi1503.
MalaCardsiCTPS1.
MIMi615897. phenotype.
OpenTargetsiENSG00000171793.
PharmGKBiPA27020.

Chemistry databases

DrugBankiDB00130. L-Glutamine.

Polymorphism and mutation databases

BioMutaiCTPS1.
DMDMi20981706.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001382751 – 591CTP synthase 1Add BLAST591

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei100N6-acetyllysineCombined sources1
Modified residuei562PhosphoserineCombined sources1
Modified residuei568PhosphoserineCombined sources1
Modified residuei571PhosphoserineCombined sources1
Modified residuei573PhosphoserineCombined sources1
Modified residuei574PhosphoserineCombined sources1
Modified residuei575PhosphoserineCombined sources1
Modified residuei578PhosphoserineBy similarity1
Modified residuei587PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP17812.
MaxQBiP17812.
PaxDbiP17812.
PeptideAtlasiP17812.
PRIDEiP17812.

PTM databases

iPTMnetiP17812.
PhosphoSitePlusiP17812.
SwissPalmiP17812.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Inductioni

Up-regulated in T-cells and B-cells activated through the TCR and the BCR respectively (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000171793.
CleanExiHS_CTPS.
GenevisibleiP17812. HS.

Organism-specific databases

HPAiCAB017111.
HPA051322.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
itself3EBI-1042983,EBI-1042983

Protein-protein interaction databases

BioGridi107883. 64 interactors.
IntActiP17812. 16 interactors.
MINTiMINT-3008801.
STRINGi9606.ENSP00000361699.

Structurei

Secondary structure

1591
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi2 – 8Combined sources7
Beta strandi10 – 15Combined sources6
Helixi16 – 29Combined sources14
Beta strandi34 – 40Combined sources7
Beta strandi87 – 89Combined sources3
Helixi90 – 102Combined sources13
Turni103 – 108Combined sources6
Helixi113 – 130Combined sources18
Beta strandi134 – 136Combined sources3
Beta strandi141 – 147Combined sources7
Helixi154 – 156Combined sources3
Helixi157 – 169Combined sources13
Helixi172 – 174Combined sources3
Beta strandi175 – 182Combined sources8
Helixi195 – 207Combined sources13
Beta strandi212 – 217Combined sources6
Helixi224 – 233Combined sources10
Helixi238 – 240Combined sources3
Beta strandi241 – 244Combined sources4
Helixi250 – 252Combined sources3
Helixi253 – 259Combined sources7
Helixi262 – 270Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2VO1X-ray2.80A/B1-273[»]
ProteinModelPortaliP17812.
SMRiP17812.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP17812.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini300 – 554Glutamine amidotransferase type-1Add BLAST255

Sequence similaritiesi

Belongs to the CTP synthase family.Curated

Keywords - Domaini

Glutamine amidotransferase

Phylogenomic databases

eggNOGiKOG2387. Eukaryota.
COG0504. LUCA.
GeneTreeiENSGT00390000012473.
HOGENOMiHOG000077514.
HOVERGENiHBG002243.
InParanoidiP17812.
KOiK01937.
OMAiSCSERHR.
OrthoDBiEOG091G03OK.
PhylomeDBiP17812.
TreeFamiTF300379.

Family and domain databases

CDDicd01746. GATase1_CTP_Synthase. 1 hit.
Gene3Di3.40.50.300. 1 hit.
3.40.50.880. 1 hit.
HAMAPiMF_01227. PyrG. 1 hit.
InterProiIPR029062. Class_I_gatase-like.
IPR004468. CTP_synthase.
IPR017456. CTP_synthase_N.
IPR017926. GATASE.
IPR033828. GATase1_CTP_Synthase.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR11550. PTHR11550. 1 hit.
PfamiPF06418. CTP_synth_N. 1 hit.
PF00117. GATase. 1 hit.
[Graphical view]
SUPFAMiSSF52317. SSF52317. 1 hit.
SSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00337. PyrG. 1 hit.
PROSITEiPS51273. GATASE_TYPE_1. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P17812-1) [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

        10         20         30         40         50
MKYILVTGGV ISGIGKGIIA SSVGTILKSC GLHVTSIKID PYINIDAGTF
60 70 80 90 100
SPYEHGEVFV LDDGGEVDLD LGNYERFLDI RLTKDNNLTT GKIYQYVINK
110 120 130 140 150
ERKGDYLGKT VQVVPHITDA IQEWVMRQAL IPVDEDGLEP QVCVIELGGT
160 170 180 190 200
VGDIESMPFI EAFRQFQFKV KRENFCNIHV SLVPQPSSTG EQKTKPTQNS
210 220 230 240 250
VRELRGLGLS PDLVVCRCSN PLDTSVKEKI SMFCHVEPEQ VICVHDVSSI
260 270 280 290 300
YRVPLLLEEQ GVVDYFLRRL DLPIERQPRK MLMKWKEMAD RYDRLLETCS
310 320 330 340 350
IALVGKYTKF SDSYASVIKA LEHSALAINH KLEIKYIDSA DLEPITSQEE
360 370 380 390 400
PVRYHEAWQK LCSAHGVLVP GGFGVRGTEG KIQAIAWARN QKKPFLGVCL
410 420 430 440 450
GMQLAVVEFS RNVLGWQDAN STEFDPTTSH PVVVDMPEHN PGQMGGTMRL
460 470 480 490 500
GKRRTLFQTK NSVMRKLYGD ADYLEERHRH RFEVNPVWKK CLEEQGLKFV
510 520 530 540 550
GQDVEGERME IVELEDHPFF VGVQYHPEFL SRPIKPSPPY FGLLLASVGR
560 570 580 590
LSHYLQKGCR LSPRDTYSDR SGSSSPDSEI TELKFPSINH D
Length:591
Mass (Da):66,690
Last modified:May 15, 2002 - v2
Checksum:i0B04F9D9390C4152
GO
Isoform 2 (identifier: P17812-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-231: Missing.

Note: No experimental confirmation available.
Show »
Length:360
Mass (Da):41,220
Checksum:iA69483C20D884FBC
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti305G → A in CAA36386 (PubMed:2113467).Curated1
Sequence conflicti309K → E in CAA36386 (PubMed:2113467).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027055571S → I.1 PublicationCorresponds to variant rs17856308dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0558271 – 231Missing in isoform 2. 1 PublicationAdd BLAST231

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X52142 mRNA. Translation: CAA36386.1.
AK299122 mRNA. Translation: BAG61176.1.
AL391730 Genomic DNA. Translation: CAH72797.1.
CH471059 Genomic DNA. Translation: EAX07192.1.
CH471059 Genomic DNA. Translation: EAX07193.1.
BC009408 mRNA. Translation: AAH09408.1.
CCDSiCCDS459.1. [P17812-1]
PIRiS12791. SYHUTP.
RefSeqiNP_001288166.1. NM_001301237.1.
NP_001896.2. NM_001905.3. [P17812-1]
UniGeneiHs.473087.

Genome annotation databases

EnsembliENST00000372616; ENSP00000361699; ENSG00000171793. [P17812-1]
ENST00000372621; ENSP00000361704; ENSG00000171793. [P17812-1]
GeneIDi1503.
KEGGihsa:1503.
UCSCiuc001cgk.5. human. [P17812-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X52142 mRNA. Translation: CAA36386.1.
AK299122 mRNA. Translation: BAG61176.1.
AL391730 Genomic DNA. Translation: CAH72797.1.
CH471059 Genomic DNA. Translation: EAX07192.1.
CH471059 Genomic DNA. Translation: EAX07193.1.
BC009408 mRNA. Translation: AAH09408.1.
CCDSiCCDS459.1. [P17812-1]
PIRiS12791. SYHUTP.
RefSeqiNP_001288166.1. NM_001301237.1.
NP_001896.2. NM_001905.3. [P17812-1]
UniGeneiHs.473087.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2VO1X-ray2.80A/B1-273[»]
ProteinModelPortaliP17812.
SMRiP17812.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107883. 64 interactors.
IntActiP17812. 16 interactors.
MINTiMINT-3008801.
STRINGi9606.ENSP00000361699.

Chemistry databases

DrugBankiDB00130. L-Glutamine.

PTM databases

iPTMnetiP17812.
PhosphoSitePlusiP17812.
SwissPalmiP17812.

Polymorphism and mutation databases

BioMutaiCTPS1.
DMDMi20981706.

Proteomic databases

EPDiP17812.
MaxQBiP17812.
PaxDbiP17812.
PeptideAtlasiP17812.
PRIDEiP17812.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372616; ENSP00000361699; ENSG00000171793. [P17812-1]
ENST00000372621; ENSP00000361704; ENSG00000171793. [P17812-1]
GeneIDi1503.
KEGGihsa:1503.
UCSCiuc001cgk.5. human. [P17812-1]

Organism-specific databases

CTDi1503.
DisGeNETi1503.
GeneCardsiCTPS1.
H-InvDBHIX0000479.
HGNCiHGNC:2519. CTPS1.
HPAiCAB017111.
HPA051322.
MalaCardsiCTPS1.
MIMi123860. gene.
615897. phenotype.
neXtProtiNX_P17812.
OpenTargetsiENSG00000171793.
PharmGKBiPA27020.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2387. Eukaryota.
COG0504. LUCA.
GeneTreeiENSGT00390000012473.
HOGENOMiHOG000077514.
HOVERGENiHBG002243.
InParanoidiP17812.
KOiK01937.
OMAiSCSERHR.
OrthoDBiEOG091G03OK.
PhylomeDBiP17812.
TreeFamiTF300379.

Enzyme and pathway databases

UniPathwayiUPA00159; UER00277.
BioCyciMetaCyc:HS10382-MONOMER.
ZFISH:HS10382-MONOMER.
ReactomeiR-HSA-499943. Synthesis and interconversion of nucleotide di- and triphosphates.
SIGNORiP17812.

Miscellaneous databases

EvolutionaryTraceiP17812.
GeneWikiiCTP_synthase_1.
GenomeRNAii1503.
PROiP17812.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171793.
CleanExiHS_CTPS.
GenevisibleiP17812. HS.

Family and domain databases

CDDicd01746. GATase1_CTP_Synthase. 1 hit.
Gene3Di3.40.50.300. 1 hit.
3.40.50.880. 1 hit.
HAMAPiMF_01227. PyrG. 1 hit.
InterProiIPR029062. Class_I_gatase-like.
IPR004468. CTP_synthase.
IPR017456. CTP_synthase_N.
IPR017926. GATASE.
IPR033828. GATase1_CTP_Synthase.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR11550. PTHR11550. 1 hit.
PfamiPF06418. CTP_synth_N. 1 hit.
PF00117. GATase. 1 hit.
[Graphical view]
SUPFAMiSSF52317. SSF52317. 1 hit.
SSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00337. PyrG. 1 hit.
PROSITEiPS51273. GATASE_TYPE_1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPYRG1_HUMAN
AccessioniPrimary (citable) accession number: P17812
Secondary accession number(s): B4DR64
, D3DPW1, Q5VW67, Q96GK6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: May 15, 2002
Last modified: November 30, 2016
This is version 180 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.