Aliases for CTPS1 Gene
External Ids for CTPS1 Gene
Previous HGNC Symbols for CTPS1 Gene
Previous GeneCards Identifiers 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 severe combined deficiency due to ctps1 deficiency. Among its related pathways are Metabolism and Purine 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.