5-nucleotidase, cytosolic IIIA(NT5C3A) Homo sapiens 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. [provided by RefSeq, Mar 2012],catalytic activity:A 5-ribonucleotide + H(2)O = a ribonucleoside + phosphate.,disease:Defects in NT5C3 are the cause of P5N deficiency [MIM:266120], also called hemolytic anemia due to P5N deficiency or hemolytic anemia due to UMPH1 deficiency. P5N deficiency is an autosomal recessive condition causing hemolytic anemia characterized by marked basophilic stipplig 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.,function:Can act both as nucleotidase and as phosphotransferase.,induction:Isoform 2 is induced by interferon alpha in Raji cells in association with lupus inclusions.,similarity:Belongs to the pyrimidine 5-nucleotidase family.,subunit:Monomer.,tissue specificity:Isoform 1 and isoform 3 are expressed in reticulocytes and lymphocytes. Isoform 4 is expressed only in reticulocytes.,
