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MGP000725

UniProt Annotations

Entry Information
Gene NameCTP synthase 1
Protein EntryPYRG1_HUMAN
UniProt IDP17812
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P17812-1; Sequence=Displayed; Name=2; IsoId=P17812-2; Sequence=VSP_055827; Note=No experimental confirmation available.;
Catalytic ActivityATP + UTP + L-glutamine = ADP + phosphate + CTP + L-glutamate. {ECO:0000269|PubMed:16179339, ECO:0000269|PubMed:24870241}.
DiseaseImmunodeficiency 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}.
Enzyme RegulationActivated by GTP and inhibited by CTP.
FunctionThis 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. {ECO:0000269|PubMed:16179339, ECO:0000269|PubMed:24870241}.
InductionUp-regulated in T-cells and B-cells activated through the TCR and the BCR respectively (at protein level). {ECO:0000269|PubMed:24870241}.
PathwayPyrimidine metabolism; CTP biosynthesis via de novo pathway; CTP from UDP: step 2/2. {ECO:0000269|PubMed:16179339, ECO:0000269|PubMed:24870241}.
SimilarityBelongs to the CTP synthase family. {ECO:0000305}.
SimilarityContains 1 glutamine amidotransferase type-1 domain. {ECO:0000305}.
Tissue SpecificityWidely expressed. {ECO:0000269|PubMed:24870241}.
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