CTPS1, Official Symbol CTPS1provided by HGNC Official Full Name CTP synthase 1provided by HGNC Primary source HGNC:HGNC:2519 See related Ensembl:ENSG00000171793 MIM:123860; AllianceGenome:HGNC:2519 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CTPS; GATD5; IMD24; GATD5A 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 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] Expression Ubiquitous expression in endometrium (RPKM 10.6), testis (RPKM 9.2) and 24 other tissues See more Orthologs mouse all