CTPS1 Lysate – Tissue Lysate

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]

CTPS: the enzyme cytidine-5-prime-triphosphate synthetase converts UTP to CTP. Important in the biosynthesis of phospholipids and nucleic acids, and plays a key role in cell growth, development, and tumorigenesis. The region to which the CTPS gene has been mapped is the location of breakpoints involved in several tumor types.

Protein type: Motility/polarity/chemotaxis; EC 6.3.4.2; Nucleotide Metabolism - pyrimidine; Ligase

Chromosomal Location of Human Ortholog: 1p34.1

Cellular Component: membrane; cytosol

Molecular Function: CTP synthase activity; ATP binding

Biological Process: T cell proliferation; B cell proliferation; response to drug; CTP biosynthetic process; nucleobase, nucleoside and nucleotide metabolic process; nucleobase, nucleoside and nucleotide interconversion; nucleobase, nucleoside, nucleotide and nucleic acid metabolic process; glutamine metabolic process

Disease: Immunodeficiency 24