CTPS1 (CTP synthase 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1503
Gene name CTP synthase 1
Gene symbol CTPS1
Synonyms (NCBI Gene)
CTPSGATD5GATD5AIMD24
Chromosome 1
Chromosome location 1p34.2
Summary 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 importa
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs145092287 G>C Pathogenic Splice acceptor variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT023253 hsa-miR-122-5p Microarray 17612493
MIRT032244 hsa-let-7b-5p Proteomics 18668040
MIRT044987 hsa-miR-186-5p CLASH 23622248
MIRT044690 hsa-miR-320a CLASH 23622248
MIRT042068 hsa-miR-484 CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Transcription factor Regulation Reference
TWIST1 Activation 19051271
TWIST2 Activation 19051271
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002376 Process Immune system process IEA
GO:0003883 Function CTP synthase activity IBA
GO:0003883 Function CTP synthase activity IDA 16179339, 17189248, 17463002, 28459447
GO:0003883 Function CTP synthase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
123860 2519 ENSG00000171793
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P17812
Protein name CTP synthase 1 (EC 6.3.4.2) (CTP synthetase 1) (UTP--ammonia ligase 1)
Protein 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,
PDB 2VO1 , 5U03 , 7MGZ , 7MH0 , 7MIF , 7MIG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06418 CTP_synth_N 2 → 272 CTP synthase N-terminus Domain
PF00117 GATase 309 → 546 Glutamine amidotransferase class-I Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:24870241}.
Sequence
Sequence length 591
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Pyrimidine metabolism
Metabolic pathways
Nucleotide metabolism
Biosynthesis of cofactors 		  Interconversion of nucleotide di- and triphosphates
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Combined immunodeficiency due to CTPS1 deficiency Pathogenic rs145092287 RCV000128633
Ovarian serous cystadenocarcinoma Pathogenic rs145092287 RCV005886893
Papillary renal cell carcinoma type 1 Pathogenic rs145092287 RCV005886892
Show/Hide Unknown Diseases (20)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs116700741 RCV005909344
Cervical cancer Benign rs116700741, rs5030799, rs140798858 RCV005909346
RCV005897108
RCV005906061
Cholangiocarcinoma Benign rs5030799 RCV005897114
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs116700741 RCV005909357
Show/Hide Text Mining Associations (19)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Colorectal Neoplasms Associate 35912542
Diabetic Foot Associate 38287255
Epstein Barr Virus Infections Associate 29282224, 34281398
Immune System Diseases Associate 34583994
Immunologic Deficiency Syndromes Associate 24870241, 32161190, 34583994
Inosine Triphosphatase Deficiency Associate 24870241, 32161190
Inosine Triphosphatase Deficiency Inhibit 34281398
Leukemia T Cell Associate 32161190
Lymphoma Associate 32161190
Lymphoproliferative Disorders Associate 34281398