CTP synthase 1

CTP synthase 1 (CTPS1) is an enzyme that in humans is encoded by the CTPS1 gene. It is a member of the CTP synthase family, which is involved in the synthesis of cytidine triphosphate (CTP), a key component of DNA and RNA.

Function

CTP synthase 1 catalyzes the conversion of uridine triphosphate (UTP) to CTP with the concurrent cleavage of glutamine to glutamate. This reaction is an important step in the nucleotide biosynthesis pathway. CTP is essential for the synthesis of DNA, RNA, and phospholipids, and is thus crucial for cell growth and proliferation.

Structure

The CTPS1 protein is a homotetramer, meaning it is composed of four identical subunits. Each subunit contains a glutamine amidotransferase domain and a nucleotide synthesis domain. The active site of the enzyme, where the reaction takes place, is located at the interface between these two domains.

Clinical significance

Mutations in the CTPS1 gene have been associated with several diseases, including immunodeficiency and neurodevelopmental disorders. In particular, a deficiency in CTP synthase 1 can lead to a decrease in the synthesis of DNA and RNA, which can impair cell growth and proliferation.

See also

• CTP synthase
• Nucleotide biosynthesis
• DNA
• RNA

References

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