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Protein

CTP synthase 1

Gene

CTPS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Activity 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 1 (CTPS1), CTP synthase 2 (CTPS2), CTP synthase, CTP synthase, CTP synthase (CTPS2), CTP synthase (pyrG)
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
  • identical protein binding Source: IntAct

GO - Biological processi

Keywordsi

Molecular functionLigase
Biological processImmunity, Pyrimidine biosynthesis
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS10382-MONOMER
ReactomeiR-HSA-499943 Interconversion of nucleotide di- and triphosphates
SIGNORiP17812
UniPathwayi
UPA00159;UER00277

Protein family/group databases

MEROPSiC26.A36

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

EuPathDBiHostDB:ENSG00000171793.13
HGNCiHGNC:2519 CTPS1
MIMi123860 gene
neXtProtiNX_P17812

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
Orphaneti420573 Severe combined immunodeficiency due to CTPS1 deficiency
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
ProteomicsDBi53516

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 Expressed in 186 organ(s), highest expression level in fundus of stomach
CleanExiHS_CTPS
GenevisibleiP17812 HS

Organism-specific databases

HPAiCAB017111
HPA051322

Interactioni

Binary interactionsi

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi107883, 70 interactors
IntActiP17812, 18 interactors
MINTiP17812
STRINGi9606.ENSP00000361699

Structurei

Secondary structure

1591
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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
GeneTreeiENSGT00910000144179
HOGENOMiHOG000077514
HOVERGENiHBG002243
InParanoidiP17812
KOiK01937
OMAiEFNNAYR
OrthoDBiEOG091G03OK
PhylomeDBiP17812
TreeFamiTF300379

Family and domain databases

CDDicd01746 GATase1_CTP_Synthase, 1 hit
Gene3Di3.40.50.880, 1 hit
HAMAPiMF_01227 PyrG, 1 hit
InterProiView protein in InterPro
IPR029062 Class_I_gatase-like
IPR004468 CTP_synthase
IPR017456 CTP_synthase_N
IPR017926 GATASE
IPR033828 GATase1_CTP_Synthase
IPR027417 P-loop_NTPase
PANTHERiPTHR11550 PTHR11550, 1 hit
PfamiView protein in Pfam
PF06418 CTP_synth_N, 1 hit
PF00117 GATase, 1 hit
SUPFAMiSSF52317 SSF52317, 1 hit
SSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR00337 PyrG, 1 hit
PROSITEiView protein in PROSITE
PS51273 GATASE_TYPE_1, 1 hit

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 → I1 PublicationCorresponds to variant dbSNP:rs17856308Ensembl.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 No translation available.
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

Similar proteinsi

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 No translation available.
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[»]
5U03electron microscopy6.10A/B/C/D1-591[»]
ProteinModelPortaliP17812
SMRiP17812
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107883, 70 interactors
IntActiP17812, 18 interactors
MINTiP17812
STRINGi9606.ENSP00000361699

Chemistry databases

DrugBankiDB00130 L-Glutamine

Protein family/group databases

MEROPSiC26.A36

PTM databases

iPTMnetiP17812
PhosphoSitePlusiP17812
SwissPalmiP17812

Polymorphism and mutation databases

BioMutaiCTPS1
DMDMi20981706

Proteomic databases

EPDiP17812
MaxQBiP17812
PaxDbiP17812
PeptideAtlasiP17812
PRIDEiP17812
ProteomicsDBi53516

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
EuPathDBiHostDB:ENSG00000171793.13
GeneCardsiCTPS1
H-InvDBiHIX0000479
HGNCiHGNC:2519 CTPS1
HPAiCAB017111
HPA051322
MalaCardsiCTPS1
MIMi123860 gene
615897 phenotype
neXtProtiNX_P17812
OpenTargetsiENSG00000171793
Orphaneti420573 Severe combined immunodeficiency due to CTPS1 deficiency
PharmGKBiPA27020
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2387 Eukaryota
COG0504 LUCA
GeneTreeiENSGT00910000144179
HOGENOMiHOG000077514
HOVERGENiHBG002243
InParanoidiP17812
KOiK01937
OMAiEFNNAYR
OrthoDBiEOG091G03OK
PhylomeDBiP17812
TreeFamiTF300379

Enzyme and pathway databases

UniPathwayi
UPA00159;UER00277

BioCyciMetaCyc:HS10382-MONOMER
ReactomeiR-HSA-499943 Interconversion of nucleotide di- and triphosphates
SIGNORiP17812

Miscellaneous databases

ChiTaRSiCTPS1 human
EvolutionaryTraceiP17812
GeneWikiiCTP_synthase_1
GenomeRNAii1503
PROiPR:P17812
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171793 Expressed in 186 organ(s), highest expression level in fundus of stomach
CleanExiHS_CTPS
GenevisibleiP17812 HS

Family and domain databases

CDDicd01746 GATase1_CTP_Synthase, 1 hit
Gene3Di3.40.50.880, 1 hit
HAMAPiMF_01227 PyrG, 1 hit
InterProiView protein in InterPro
IPR029062 Class_I_gatase-like
IPR004468 CTP_synthase
IPR017456 CTP_synthase_N
IPR017926 GATASE
IPR033828 GATase1_CTP_Synthase
IPR027417 P-loop_NTPase
PANTHERiPTHR11550 PTHR11550, 1 hit
PfamiView protein in Pfam
PF06418 CTP_synth_N, 1 hit
PF00117 GATase, 1 hit
SUPFAMiSSF52317 SSF52317, 1 hit
SSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR00337 PyrG, 1 hit
PROSITEiView protein in PROSITE
PS51273 GATASE_TYPE_1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPYRG1_HUMAN
AccessioniPrimary (citable) accession number: P17812
Secondary accession number(s): B4DR64
, D3DPW1, Q5VW67, Q96GK6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: May 15, 2002
Last modified: November 7, 2018
This is version 198 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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