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Aliases for CTPS1 Gene

Aliases for CTPS1 Gene

  • CTP Synthase 1 2 3 5
  • UTP--Ammonia Ligase 1 3 4
  • CTP Synthetase 1 3 4
  • EC 6.3.4.2 4 63
  • CTPS 3 4
  • Cytidine 5-Prime Triphosphate Synthetase 3
  • Cytidine 5-Triphosphate Synthetase 3
  • CTP Synthase 2
  • IMD24 3

External Ids for CTPS1 Gene

Previous HGNC Symbols for CTPS1 Gene

  • CTPS

Previous GeneCards Identifiers for CTPS1 Gene

  • GC01P041445

Summaries for CTPS1 Gene

Entrez Gene Summary for CTPS1 Gene

  • This gene encodes an enzyme responsible for the catalytic conversion of UTP (uridine triphosphate) to CTP (cytidine triphospate). This reaction is an important step in the biosynthesis of phospholipids and nucleic acids. Activity of this proten is important in the immune system, and loss of function of this gene has been associated with immunodeficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for CTPS1 Gene

CTPS1 (CTP Synthase 1) is a Protein Coding gene. Diseases associated with CTPS1 include immunodeficiency 24 and severe combined immunodeficiency due to ctps1 deficiency. Among its related pathways are Metabolism and Purine metabolism. GO annotations related to this gene include hydrolase activity and CTP synthase activity. An important paralog of this gene is CTPS2.

UniProtKB/Swiss-Prot for CTPS1 Gene

  • 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.

Gene Wiki entry for CTPS1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTPS1 Gene

Genomics for CTPS1 Gene

Regulatory Elements for CTPS1 Gene

Promoters for CTPS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CTPS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CTPS1 Gene

Chromosome:
1
Start:
40,979,299 bp from pter
End:
41,012,565 bp from pter
Size:
33,267 bases
Orientation:
Plus strand

Genomic View for CTPS1 Gene

Genes around CTPS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTPS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTPS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTPS1 Gene

Proteins for CTPS1 Gene

  • Protein details for CTPS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17812-PYRG1_HUMAN
    Recommended name:
    CTP synthase 1
    Protein Accession:
    P17812
    Secondary Accessions:
    • B4DR64
    • D3DPW1
    • Q5VW67
    • Q96GK6

    Protein attributes for CTPS1 Gene

    Size:
    591 amino acids
    Molecular mass:
    66690 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CTPS1 Gene

    Alternative splice isoforms for CTPS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CTPS1 Gene

Proteomics data for CTPS1 Gene at MOPED

Post-translational modifications for CTPS1 Gene

  • Ubiquitination at Lys 92, Lys 100, Lys 309, Lys 319, Lys 460, and Lys 535
  • Modification sites at PhosphoSitePlus

Other Protein References for CTPS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for CTPS1 Gene

Graphical View of Domain Structure for InterPro Entry

P17812

UniProtKB/Swiss-Prot:

PYRG1_HUMAN :
  • Contains 1 glutamine amidotransferase type-1 domain.
  • Belongs to the CTP synthase family.
Domain:
  • Contains 1 glutamine amidotransferase type-1 domain.
Family:
  • Belongs to the CTP synthase family.
genes like me logo Genes that share domains with CTPS1: view

No data available for Gene Families for CTPS1 Gene

Function for CTPS1 Gene

Molecular function for CTPS1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + UTP + L-glutamine = ADP + phosphate + CTP + L-glutamate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by GTP and inhibited by CTP.
UniProtKB/Swiss-Prot Function:
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.
UniProtKB/Swiss-Prot Induction:
Up-regulated in T-cells and B-cells activated through the TCR and the BCR respectively (at protein level).

Enzyme Numbers (IUBMB) for CTPS1 Gene

Phenotypes for CTPS1 Gene

GenomeRNAi human phenotypes for CTPS1:
genes like me logo Genes that share phenotypes with CTPS1: view

Human Phenotype Ontology for CTPS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for CTPS1

CRISPR Products

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for CTPS1 Gene

Localization for CTPS1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CTPS1 Gene COMPARTMENTS Subcellular localization image for CTPS1 gene
Compartment Confidence
cytosol 5
chloroplast 2
cytoskeleton 2
plasma membrane 2
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CTPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CTPS1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CTPS1 Gene

Pathways & Interactions for CTPS1 Gene

genes like me logo Genes that share pathways with CTPS1: view

UniProtKB/Swiss-Prot P17812-PYRG1_HUMAN

  • Pathway: Pyrimidine metabolism; CTP biosynthesis via de novo pathway; CTP from UDP: step 2/2.

SIGNOR curated interactions for CTPS1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CTPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process TAS 2113467
GO:0006221 pyrimidine nucleotide biosynthetic process IEA --
GO:0006241 CTP biosynthetic process IMP 24870241
GO:0006541 glutamine metabolic process IEA --
GO:0015949 nucleobase-containing small molecule interconversion TAS --
genes like me logo Genes that share ontologies with CTPS1: view

Drugs & Compounds for CTPS1 Gene

(9) Drugs for CTPS1 Gene - From: Novoseek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Target, antagonist 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 57
Adenosine triphosphate Approved Nutra 0
Cytidine triphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(9) Additional Compounds for CTPS1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with CTPS1: view

Transcripts for CTPS1 Gene

Unigene Clusters for CTPS1 Gene

CTP synthase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CTPS1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14 ^ 15a · 15b ^
SP1: - - - - - - - -
SP2: - - - -
SP3:
SP4: - -
SP5: -
SP6:
SP7: - - - - - - - - - - - - -
SP8: - - -
SP9: -
SP10:
SP11: - -
SP12: - - -
SP13: - -

ExUns: 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b · 23c · 23d
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6: - -
SP7:
SP8:
SP9: -
SP10: -
SP11:
SP12:
SP13:

Relevant External Links for CTPS1 Gene

GeneLoc Exon Structure for
CTPS1
ECgene alternative splicing isoforms for
CTPS1

Expression for CTPS1 Gene

mRNA expression in normal human tissues for CTPS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CTPS1 Gene

This gene is overexpressed in Salivary gland (11.7) and Lymph node (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CTPS1 Gene



SOURCE GeneReport for Unigene cluster for CTPS1 Gene Hs.473087

mRNA Expression by UniProt/SwissProt for CTPS1 Gene

P17812-PYRG1_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with CTPS1: view

Protein tissue co-expression partners for CTPS1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CTPS1 Gene

Orthologs for CTPS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CTPS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CTPS 35
  • 99.72 (n)
  • 99.66 (a)
CTPS1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CTPS 36
  • 98 (a)
OneToOne
CTPS 35
  • 91.6 (n)
  • 97.97 (a)
dog
(Canis familiaris)
Mammalia CTPS 35
  • 90.92 (n)
  • 97.97 (a)
CTPS1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ctps 16
Ctps 35
  • 90.13 (n)
  • 97.8 (a)
Ctps 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CTPS1 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTPS1 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ctps1 35
  • 90.3 (n)
  • 97.46 (a)
chicken
(Gallus gallus)
Aves CTPS1 36
  • 90 (a)
OneToOne
CTPS 35
  • 80.49 (n)
  • 94.25 (a)
lizard
(Anolis carolinensis)
Reptilia CTPS1 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ctps1 35
  • 76.31 (n)
  • 88.83 (a)
Str.6044 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
ctps1a 35
  • 74.96 (n)
  • 86.63 (a)
ctps1a 36
  • 86 (a)
OneToMany
ctps1b 36
  • 86 (a)
OneToMany
ctps1b 36
  • 86 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009624 35
  • 59.18 (n)
  • 63.39 (a)
fruit fly
(Drosophila melanogaster)
Insecta CTPsyn 35
  • 61.77 (n)
  • 66.67 (a)
CTPsyn 36
  • 62 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ctps-1 35
  • 57.61 (n)
  • 55.98 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URA8 35
  • 58.18 (n)
  • 58.48 (a)
URA7 36
  • 57 (a)
OneToMany
URA7 38
thale cress
(Arabidopsis thaliana)
eudicotyledons emb2742 35
  • 58.81 (n)
  • 59.82 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.1765 35
rice
(Oryza sativa)
Liliopsida Os05g0573300 35
  • 59.72 (n)
  • 60.68 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2906 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3483 36
  • 61 (a)
OneToMany
Species with no ortholog for CTPS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CTPS1 Gene

ENSEMBL:
Gene Tree for CTPS1 (if available)
TreeFam:
Gene Tree for CTPS1 (if available)

Paralogs for CTPS1 Gene

Paralogs for CTPS1 Gene

(1) SIMAP similar genes for CTPS1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CTPS1: view

Variants for CTPS1 Gene

Sequence variations from dbSNP and Humsavar for CTPS1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2897230 -- 40,978,873(+) GAACT(G/T)TTGGG upstream-variant-2KB
rs4363414 -- 41,010,445(+) GGCAG(C/T)CCTTC intron-variant
rs4132440 -- 40,983,957(-) CACAG(C/T)TGTAT intron-variant
rs4660182 -- 40,990,881(+) AAATG(G/T)GGAGA intron-variant
rs4660496 -- 40,998,455(+) GCTCA(A/G)ATTCT intron-variant

Variation tolerance for CTPS1 Gene

Residual Variation Intolerance Score: 15.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.75; 15.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CTPS1 Gene

HapMap Linkage Disequilibrium report
CTPS1
Human Gene Mutation Database (HGMD)
CTPS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CTPS1 Gene

Disorders for CTPS1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CTPS1 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 24
  • imd24
severe combined immunodeficiency due to ctps1 deficiency
  • scid due to ctps1 deficiency
sleeping sickness
  • african sleeping sickness
crest syndrome
  • calcinosis - raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia
ebola hemorrhagic fever
  • ebola virus disease
- elite association - COSMIC cancer census association via MalaCards
Search CTPS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PYRG1_HUMAN
  • Immunodeficiency 24 (IMD24) [MIM:615897]: A 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. {ECO:0000269 PubMed:24870241}. Note=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. {ECO:0000269 PubMed:24870241}.

Relevant External Links for CTPS1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CTPS1
genes like me logo Genes that share disorders with CTPS1: view

No data available for Genatlas for CTPS1 Gene

Publications for CTPS1 Gene

  1. CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation. (PMID: 24870241) Martin E. … Latour S. (Nature 2014) 3 4 67
  2. The role of lysine residues 297 and 306 in nucleoside triphosphate regulation of E. coli CTP synthase: inactivation by 2',3'-dialdehyde ATP and mutational analyses. (PMID: 16427816) MacLeod T.J. … Bearne S.L. (Biochim. Biophys. Acta 2006) 23 25 26
  3. Expression, purification, characterization, and in vivo targeting of trypanosome CTP synthetase for treatment of African sleeping sickness. (PMID: 17331943) Fijolek A. … Thelander L. (J. Biol. Chem. 2007) 25 26
  4. Cytidine triphosphate synthase activity and mRNA expression in normal human blood cells. (PMID: 10064135) Verschuur A.C. … Van Kuilenburg A.B. (Biol. Chem. 1999) 3 23
  5. Genomic organization and chromosomal localization of the human CTP synthetase gene (CTPS). (PMID: 1783378) Yamauchi M. … Meuth M. (Genomics 1991) 2 3

Products for CTPS1 Gene

Sources for CTPS1 Gene

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