Human Gene CTPS1 (ENST00000650070.2_6) from GENCODE V47lift37
  Description: CTP synthase 1, transcript variant 1 (from RefSeq NM_001905.4)
Gencode Transcript: ENST00000650070.2_6
Gencode Gene: ENSG00000171793.17_18
Transcript (Including UTRs)
   Position: hg19 chr1:41,445,368-41,478,237 Size: 32,870 Total Exon Count: 19 Strand: +
Coding Region
   Position: hg19 chr1:41,448,963-41,475,917 Size: 26,955 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:41,445,368-41,478,237)mRNA (may differ from genome)Protein (591 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PYRG1_HUMAN
DESCRIPTION: RecName: Full=CTP synthase 1; EC=6.3.4.2; AltName: Full=CTP synthetase 1; AltName: Full=UTP--ammonia ligase 1;
FUNCTION: Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as the source of nitrogen.
CATALYTIC ACTIVITY: ATP + UTP + NH(3) = ADP + phosphate + CTP.
ENZYME REGULATION: Activated by GTP and inhibited by CTP.
PATHWAY: Pyrimidine metabolism; CTP biosynthesis via de novo pathway; CTP from UDP: step 2/2.
SIMILARITY: Belongs to the CTP synthase family.
SIMILARITY: Contains 1 glutamine amidotransferase type-1 domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CTPS1
Diseases sorted by gene-association score: immunodeficiency 24* (1368), sleeping sickness (8), acquired thrombocytopenia (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -55.90147-0.380 Picture PostScript Text
3' UTR -296.90917-0.324 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004468 - CTP_synthase
IPR017456 - CTP_synthase_N
IPR017926 - GATASE_1

Pfam Domains:
PF00117 - Glutamine amidotransferase class-I
PF06418 - CTP synthase N-terminus
PF07722 - Peptidase C26

SCOP Domains:
52317 - Class I glutamine amidotransferase-like
52540 - P-loop containing nucleoside triphosphate hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2VO1 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P17812
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003883 CTP synthase activity
GO:0005524 ATP binding
GO:0016874 ligase activity
GO:0042802 identical protein binding

Biological Process:
GO:0002376 immune system process
GO:0006139 nucleobase-containing compound metabolic process
GO:0006221 pyrimidine nucleotide biosynthetic process
GO:0006241 CTP biosynthetic process
GO:0006541 glutamine metabolic process
GO:0015949 nucleobase-containing small molecule interconversion
GO:0042098 T cell proliferation
GO:0042100 B cell proliferation
GO:0042493 response to drug
GO:0044210 'de novo' CTP biosynthetic process

Cellular Component:
GO:0005829 cytosol
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  BC009408 - Homo sapiens CTP synthase, mRNA (cDNA clone MGC:10396 IMAGE:3355881), complete cds.
AK297386 - Homo sapiens cDNA FLJ60075 complete cds, highly similar to CTP synthase 1 (EC 6.3.4.2).
JD150040 - Sequence 131064 from Patent EP1572962.
AK299122 - Homo sapiens cDNA FLJ59392 complete cds, highly similar to CTP synthase 1 (EC 6.3.4.2).
X52142 - Human mRNA for CTP synthetase (EC 6.3.4.2).
JD117692 - Sequence 98716 from Patent EP1572962.
AK225899 - Homo sapiens mRNA for CTP synthase variant, clone: FCC120E03.
AK304817 - Homo sapiens cDNA FLJ54863 complete cds, highly similar to CTP synthase 1 (EC 6.3.4.2).
AK130549 - Homo sapiens cDNA FLJ27039 fis, clone SLV08494, highly similar to CTP synthase (EC 6.3.4.2).
AK303797 - Homo sapiens cDNA FLJ58563 complete cds, highly similar to CTP synthase 1 (EC 6.3.4.2).
JD112686 - Sequence 93710 from Patent EP1572962.
JD224758 - Sequence 205782 from Patent EP1572962.
JD159794 - Sequence 140818 from Patent EP1572962.
JD153496 - Sequence 134520 from Patent EP1572962.
JD234337 - Sequence 215361 from Patent EP1572962.
JD552599 - Sequence 533623 from Patent EP1572962.
JD229908 - Sequence 210932 from Patent EP1572962.
JD263372 - Sequence 244396 from Patent EP1572962.
JD144165 - Sequence 125189 from Patent EP1572962.
JD147366 - Sequence 128390 from Patent EP1572962.
JD298208 - Sequence 279232 from Patent EP1572962.
JD379109 - Sequence 360133 from Patent EP1572962.
JD359757 - Sequence 340781 from Patent EP1572962.
JD499169 - Sequence 480193 from Patent EP1572962.
JD510782 - Sequence 491806 from Patent EP1572962.
MP202708 - Sequence 19 from Patent WO2019090263.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5921 - glutaminyl-tRNAgln biosynthesis via transamidation
PWY-7176 - UTP and CTP de novo biosynthesis
PWY-7185 - UTP and CTP dephosphorylation I
PWY-7211 - superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis
PWY0-162 - superpathway of pyrimidine ribonucleotides de novo biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein P17812 (Reactome details) participates in the following event(s):

R-HSA-73647 UTP + glutamine + ATP + H2O => CTP + glutamate + ADP + orthophosphate [CTPS]
R-HSA-499943 Interconversion of nucleotide di- and triphosphates
R-HSA-15869 Metabolism of nucleotides
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B4DR64, CTPS , CTPS1 , D3DPW1, ENST00000650070.1, NM_001905, P17812, PYRG1_HUMAN, Q5VW67, Q96GK6, uc328rbj.1, uc328rbj.2
UCSC ID: ENST00000650070.2_6
RefSeq Accession: NM_001905.4
Protein: P17812 (aka PYRG1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.