NT5C3A

This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of pyrimidine 5' monophosphates. Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4.

Full Name

5'-Nucleotidase, Cytosolic IIIA

Function

Nucleotidase which shows specific activity towards cytidine monophosphate (CMP) and 7-methylguanosine monophosphate (m7GMP) (PubMed:24603684).
CMP seems to be the preferred substrate (PubMed:15968458).

Biological Process

Defense response to virusManual Assertion Based On ExperimentIDA:UniProtKB
Nucleotide metabolic processIEA:UniProtKB-KW
Pyrimidine nucleoside metabolic process1 PublicationNAS:UniProtKB

Cellular Location

Cytoplasm
Isoform 2
Endoplasmic reticulum

Involvement in disease

P5N deficiency (P5ND):
Autosomal recessive condition causing hemolytic anemia characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. It is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties.