CTPS1

CTPS1 (CTP Synthase 1) is a Protein Coding gene. Diseases associated with CTPS1 include Immunodeficiency 24 and Sleeping Sickness. Among its related pathways are Pyrimidine metabolism (KEGG) and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity and CTP synthase activity. An important paralog of this gene is CTPS2.

CTP Synthase 1

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.

de novo' CTP biosynthetic process Source: UniProtKB-UniPathway
B cell proliferation Source: UniProtKB
CTP biosynthetic process Source: UniProtKB
Glutamine metabolic process Source: UniProtKB-KW
Nucleobase-containing compound metabolic process Source: ProtInc
Nucleobase-containing small molecule interconversion Source: Reactome
Pyrimidine nucleobase biosynthetic process Source: GO_Central
Response to drug Source: ProtInc
T cell proliferation Source: UniProtKB

Cytosol. Mainly cytosolic but when active detected in long filamentous structures (PubMed:25223282). Co-localizes with TNK2 in the cytosolic filaments (By similarity).

Immunodeficiency 24 (IMD24):
The disease is caused by variants 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.
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.