NT5C3A gene

5'-nucleotidase, cytosolic IIIA

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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

From NCBI Gene:

  • Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to

From UniProt:

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. [MIM:266120]

Cytogenetic Location: 7p14.3, which is the short (p) arm of chromosome 7 at position 14.3

Molecular Location: base pairs 33,014,113 to 33,062,797 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7p14.3, which is the short (p) arm of chromosome 7 at position 14.3
  • cN-III
  • hUMP1
  • NT5C3
  • P5'N-1
  • P5N-1
  • p36
  • PN-I
  • POMP
  • PSN1
  • UMPH
  • UMPH1