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Aliases for CTPS1 Gene

Aliases for CTPS1 Gene

  • CTP Synthase 1 2 3 3 5
  • UTP--Ammonia Ligase 1 3 4
  • CTP Synthetase 1 3 4
  • CTPS 3 4
  • Cytidine 5-Prime Triphosphate Synthetase 3
  • Cytidine 5-Triphosphate Synthetase 3
  • CTP Synthase 2
  • EC 4
  • GATD5 3
  • 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 Sleeping Sickness. Among its related pathways are Metabolism and superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis. Gene Ontology (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

Additional gene information for CTPS1 Gene

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

Genomics for CTPS1 Gene

GeneHancer (GH) Regulatory Elements for CTPS1 Gene

Promoters and enhancers for CTPS1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J040976 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 665.7 -0.1 -95 6.1 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B CTPS1 GC01M040907 EXO5 SLFNL1 NFYC ENSG00000235358 RLF SCMH1 FOXO6
GH01J040372 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10 -603.4 -603446 5.9 FEZF1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D ZNF610 GLIS1 NBN SMAP2 PPIEL EXO5 PPIE TRIT1 ENSG00000259943 NFYC-AS1 RLF LOC105378674 ENSG00000229528
GH01J041238 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 8.9 +261.8 261825 5.6 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 YBX1 YY1 SLC30A9 ENSG00000235358 SCMH1 LOC102723924 EXO5 FOXO6 NFYC CTPS1 PIR51229
GH01J040943 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.8 -33.9 -33919 2.9 ELF3 RAD21 RARA RFX5 YY1 EGR1 ZNF366 RCOR1 THAP11 MIXL1 UBE2V1P8 CITED4 ENSG00000229528 CTPS1 MIR30C1 MIR30E NFYC EXO5 ENSG00000235358 GC01P040947
GH01J040939 Enhancer 1.2 Ensembl ENCODE 11.7 -39.4 -39360 1.1 PKNOX1 FOXA2 MLX ARNT ARID4B YY1 SLC30A9 SP5 MXD4 REST LOC100128362 CTPS1 MIR30C1 MIR30E NFYC CITED4 GC01M040945 GC01M040907
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTPS1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CTPS1 Gene

Genomic Locations for CTPS1 Gene
33,267 bases
Plus strand
33,229 bases
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:
    Recommended name:
    CTP synthase 1
    Protein Accession:
    Secondary Accessions:
    • B4DR64
    • D3DPW1
    • Q5VW67
    • Q96GK6

    Protein attributes for CTPS1 Gene

    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


neXtProt entry for CTPS1 Gene

Post-translational modifications for CTPS1 Gene

  • Ubiquitination at posLast=535535, posLast=460460, posLast=319319, posLast=309309, posLast=100100, and posLast=9292
  • Modification sites at PhosphoSitePlus

Other Protein References for CTPS1 Gene

No data available for DME Specific Peptides for CTPS1 Gene

Domains & Families for CTPS1 Gene

Gene Families for CTPS1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the CTP synthase family.
  • Belongs to the CTP synthase family.
genes like me logo Genes that share domains with CTPS1: view

Function for CTPS1 Gene

Molecular function for CTPS1 Gene

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 CatalyticActivity:
ATP + UTP + L-glutamine = ADP + phosphate + CTP + L-glutamate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by GTP and inhibited by CTP.
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

Gene Ontology (GO) - Molecular Function for CTPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003883 CTP synthase activity IMP,TAS 24870241
GO:0005515 protein binding IPI 17353931
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with CTPS1: view
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTPS1

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for CTPS1 Gene

Localization for CTPS1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTPS1 gene
Compartment Confidence
cytosol 5
plasma membrane 2
cytoskeleton 2
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (3)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CTPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA 19946888
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:0002376 immune system process IEA --
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 --
genes like me logo Genes that share ontologies with CTPS1: view

Drugs & Compounds for CTPS1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Target, antagonist 0
Ammonia Approved Pharma 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 64
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTPS1

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: - - - -
SP4: - -
SP5: -
SP7: - - - - - - - - - - - - -
SP8: - - -
SP9: -
SP11: - -
SP12: - - -
SP13: - -

ExUns: 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b · 23c · 23d
SP1: -
SP2: -
SP3: -
SP6: - -
SP9: -
SP10: -

Relevant External Links for CTPS1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CTPS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CTPS1 Gene

Protein tissue co-expression partners for CTPS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CTPS1 Gene:


SOURCE GeneReport for Unigene cluster for CTPS1 Gene:


mRNA Expression by UniProt/SwissProt for CTPS1 Gene:

Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for CTPS1 Gene

  • Blood(4.4)
  • Eye(4.3)
  • Nervous system(3.5)
  • Bone marrow(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CTPS1 Gene

Germ Layers:
  • mesoderm
  • immune
  • blood
  • bone marrow
  • white blood cell
genes like me logo Genes that share expression patterns with CTPS1: view

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
(Pan troglodytes)
Mammalia CTPS1 34
  • 100 (a)
  • 99.72 (n)
(Canis familiaris)
Mammalia CTPS1 34
  • 98 (a)
  • 90.92 (n)
(Monodelphis domestica)
Mammalia CTPS1 34
  • 98 (a)
(Ornithorhynchus anatinus)
Mammalia CTPS1 34
  • 95 (a)
(Bos Taurus)
Mammalia CTPS 34 33
  • 91.6 (n)
(Rattus norvegicus)
Mammalia Ctps1 33
  • 90.3 (n)
(Mus musculus)
Mammalia Ctps 16 34 33
  • 90.13 (n)
(Gallus gallus)
Aves CTPS1 34
  • 90 (a)
  • 80.49 (n)
(Anolis carolinensis)
Reptilia CTPS1 34
  • 92 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ctps1 33
  • 76.31 (n)
Str.6044 33
(Danio rerio)
Actinopterygii ctps1b 34 34
  • 86 (a)
ctps1a 34 33
  • 74.96 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CTPsyn 34 33
  • 61.77 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009624 33
  • 59.18 (n)
(Caenorhabditis elegans)
Secernentea ctps-1 33
  • 57.61 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URA8 33
  • 58.18 (n)
URA7 36 34
  • 57 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons emb2742 33
  • 58.81 (n)
(Oryza sativa)
Liliopsida Os05g0573300 33
  • 59.72 (n)
(Hordeum vulgare)
Liliopsida Hv.1765 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3483 34
  • 61 (a)
Cin.2906 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2906 33
Species where no ortholog for CTPS1 was found in the sources mined by GeneCards:
  • 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

Gene Tree for CTPS1 (if available)
Gene Tree for CTPS1 (if available)
Evolutionary constrained regions (ECRs) for CTPS1: view image

Paralogs for CTPS1 Gene

Paralogs for CTPS1 Gene

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

  • B4DR64_HUMAN
  • B7Z9C4_HUMAN
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 Variation AA Info Type
rs145092287 pathogenic, Immunodeficiency 24, not provided 41,010,160(+) G/C splice_acceptor_variant
rs5030799 benign, Immunodeficiency 24 40,988,656(+) A/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs12718433 benign, not specified 41,001,131(+) G/A/C intron_variant
rs1000054079 -- 41,000,166(+) T/C intron_variant, non_coding_transcript_variant
rs1000282398 -- 40,985,633(+) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CTPS1 Gene

Variant ID Type Subtype PubMed ID
nsv546103 CNV loss 21841781
nsv621 CNV deletion 18451855

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)

Additional Variant Information for CTPS1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTPS1 Gene

Disorders for CTPS1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
immunodeficiency 24
  • imd24
sleeping sickness
  • african sleeping sickness
- elite association - COSMIC cancer census association via MalaCards
Search CTPS1 in MalaCards View complete list of genes associated with diseases


  • 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}.

Additional Disease Information for 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 58
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  4. 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 TJ … Bearne SL (Biochimica et biophysica acta 2006) 22 25 58
  5. Expression of Human CTP synthetase in Saccharomyces cerevisiae reveals phosphorylation by protein kinase A. (PMID: 16179339) Han GS … Carman GM (The Journal of biological chemistry 2005) 3 4 58

Products for CTPS1 Gene

Sources for CTPS1 Gene

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