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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 61
  • 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 Sleeping Sickness. Among its related pathways are superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis and 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

Enhancers for CTPS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F040976 1.3 Ensembl ENCODE 15.7 -0.1 -95 6.1 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 CBX5 ZNF207 CTPS1 ENSG00000235358 EXO5 SLFNL1 FOXO6 GC01M040907
GH01F040967 1.3 Ensembl ENCODE 14.5 -11.2 -11197 1.9 HDGF ATF1 ARNT SIN3A GLI4 FEZF1 ZNF2 ZNF48 YY1 ZNF121 CTPS1 ENSG00000235358 SLFNL1 GC01M040907 GC01P040947
GH01F040939 1.3 Ensembl ENCODE 11.7 -39.4 -39399 1.4 ATF1 PKNOX1 ARNT CREB3L1 MLX ARID4B ZNF48 YY1 SLC30A9 GATA2 CTPS1 MIR30C1 MIR30E NFYC CITED4 GC01M040945 LOC100128362
GH01F040372 1.5 FANTOM5 ENCODE 10 -603.4 -603447 5.9 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 ZNF2 YY1 SMAP2 PPIEL LOC105378674 ENSG00000229528 ENSG00000213987 LOC101929516 EXO5 SNORA55 PABPC4 LOC105378672
GH01F040943 1.2 Ensembl ENCODE 11.7 -33.9 -33919 2.9 ELF3 RAD21 RARA RFX5 YY1 ZNF366 RCOR1 FOS DEK MIXL1 CITED4 ENSG00000229528 CTPS1 MIR30E MIR30C1 NFYC EXO5 ENSG00000235358 GC01P040947 UBE2V1P8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CTPS1 on UCSC Golden Path with GeneCards custom track

Promoters for CTPS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000535186 702 2400 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 CBX5

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

Selected DME Specific Peptides for CTPS1 Gene

P17812:
  • EAFRQFQFK
  • TTGKIYQ
  • EERHRHR
  • GGTMRLG
  • KIDPYIN
  • HPEFLSRP
  • GTILKSCGL
  • HEAWQKLC
  • YLGKTVQ
  • KALEHSALAI
  • GGVISGIGKG
  • DANSTEF
  • DMPEHNPG
  • ERKGDYLG
  • PHITDAI
  • ANSTEFD
  • GGTVGDIES
  • LMKWKEMADRY
  • DLDLGNYER
  • IHVSLVP
  • EFSRNVL
  • TGEQKTKPTQNSVR
  • EHGEVFV
  • HGEVFVL
  • LRGLGLSPDL
  • QVICVHDVSSIYRVPLLLEEQGVVDYF
  • VKEKISMFCHV
  • CLGMQLAV
  • RGTEGKI
  • GNYERFLD
  • DPYINID
  • PGGFGVRG
  • TVQVVPH
  • PYEHGEV
  • CSIALVGKYTK

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

Gene Ontology (GO) - Molecular Function for CTPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003883 CTP synthase activity IMP 24870241
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

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CTPS1 Gene

Localization for CTPS1 Gene

Subcellular locations from

COMPARTMENTS
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

Gene Ontology (GO) - Cellular Components for CTPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 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 IEA,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
Famotidine Approved Pharma Histamine H2-receptor antagonist 59
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0

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

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
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and 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, PaxDb, 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:

CTPS1

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

Primer 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 CTPS1 35
  • 100 (a)
OneToOne
CTPS 34
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia CTPS1 35
  • 98 (a)
OneToOne
CTPS 34
  • 90.92 (n)
oppossum
(Monodelphis domestica)
Mammalia CTPS1 35
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTPS1 35
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CTPS 34 35
  • 91.6 (n)
rat
(Rattus norvegicus)
Mammalia Ctps1 34
  • 90.3 (n)
mouse
(Mus musculus)
Mammalia Ctps 34 16 35
  • 90.13 (n)
chicken
(Gallus gallus)
Aves CTPS1 35
  • 90 (a)
OneToOne
CTPS 34
  • 80.49 (n)
lizard
(Anolis carolinensis)
Reptilia CTPS1 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ctps1 34
  • 76.31 (n)
Str.6044 34
zebrafish
(Danio rerio)
Actinopterygii ctps1b 35 35
  • 86 (a)
OneToMany
ctps1a 34 35
  • 74.96 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta CTPsyn 34 35
  • 61.77 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009624 34
  • 59.18 (n)
worm
(Caenorhabditis elegans)
Secernentea ctps-1 34
  • 57.61 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URA8 34
  • 58.18 (n)
URA7 35 37
  • 57 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons emb2742 34
  • 58.81 (n)
rice
(Oryza sativa)
Liliopsida Os05g0573300 34
  • 59.72 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.1765 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3483 35
  • 61 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2906 34
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

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
rs145092287 Pathogenic 41,010,160(+) CTACA(C/G)GGACA splice-acceptor-variant
rs111422155 -- 40,997,848(+) AGTTG(A/G)TAGCT intron-variant
rs111430427 -- 41,012,814(+) TGAAA(A/G)GGTGC downstream-variant-500B, upstream-variant-2KB
rs111470350 -- 40,982,206(+) CCTGC(C/T)ACCGT intron-variant
rs111493048 -- 40,988,640(+) TGAGG(C/T)CTTCC nc-transcript-variant, reference, missense

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)

Relevant External Links for CTPS1 Gene

Human Gene Mutation Database (HGMD)
CTPS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTPS1

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

Disorders for CTPS1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
immunodeficiency 24
  • severe combined immunodeficiency due to ctps1 deficiency
sleeping sickness
  • african sleeping sickness
ebola hemorrhagic fever
  • ebola virus disease
acquired thrombocytopenia
  • secondary thrombocytopenia
- 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 64
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  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 T.J. … Bearne S.L. (Biochim. Biophys. Acta 2006) 22 25 64
  5. Expression of human CTP synthetase in Saccharomyces cerevisiae reveals phosphorylation by protein kinase A. (PMID: 16179339) Han G.-S. … Carman G.M. (J. Biol. Chem. 2005) 3 4 64

Products for CTPS1 Gene

Sources for CTPS1 Gene

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