NT5C3

NT5C3 belongs to the pyrimidine 5'-nucleotidase(P5N) family. P5N includes type I and type II isozymes, which catalyze the dephosphorylation of the pyrimidine 5'-monophosphates UMP and CMP to the corresponding nucleosides. NT5C3 is the type I P5N isozyme and a gene on chromosome 17 encodes the type II P5N isozyme. It can act both as nucleotidase and as phosphotransferase. Defects in NT5C3 are the cause of P5N deficiency (P5ND), also called hemolytic anemia due to P5N deficiency or hemolytic anemia due to UMPH1 deficiency. P5ND 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.

NT5C3 Related Areas

Enzyme >>Other>> NT5C3

NT5C3 Alternative Names

HSPC233, MGC27337, MGC87109, MGC87828, P5'N-1, P5N-1, PN-I, PSN1, UMPH, UMPH1, cN-III, p36. cytosolic 5'-nucleotidase 3, pyrimidine 5'-nucleotidase 1, uridine 5'-monophosphate hydrolase 1 [Homo sapiens]

1600024P05Rik, 2610206B05Rik, 3110004A18Rik, AI842776, Nt5y, PN-1, PN-I, PSN1, UMPH, Umph-1, Umph1, cN-III, lupin, p36, 5'-nucleotidase, pyrimidine, P5'N-1, P5N-1, cytosolic 5'-nucleotidase 3, cytosolic 5'-nucleotidase III, pyrimidine 5'-nucleotidase 1, uridine monophosphatase 1 [Mus musculus]

Summaries for NT5C3

Entrez Gene summary for NT5C3:

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.

OMIM - description for NT5C3:

Pyrimidine 5-prime-nucleotidase (P5N; EC 3.1.3.5), also called uridine 5-prime monophosphate hydrolase (UMPH), catalyzes the dephosphorylation of the pyrimidine 5-prime monophosphates UMP and CMP to the corresponding nucleosides. There are 2 isozymes of pyrimidine 5-prime nucleotidase in red blood cells, referred to as type I (UMPH1) and type II (UMPH2; 191720). The 2 enzymes are not separable by electrophoresis in humans but have distinct kinetic properties, and the proteins show no homology.

Wikipedia summary for NT5C3:

Cytosolic 5'-nucleotidase 3 is an enzyme that in humans is encoded by the NT5C3 gene. Pyrimidine 5-prime-nucleotidase (P5N; EC 3.1.3.5), also called uridine 5-prime monophosphate hydrolase (UMPH), catalyzes the dephosphorylation of the pyrimidine 5-prime monophosphates UMP and CMP to the corresponding nucleosides. There are 2 isozymes of pyrimidine 5-prime nucleotidase in red blood cells, referred to as type I (UMPH1) and type II (UMPH2; MIM 191720). The 2 enzymes are not separable by electrophoresis in humans but have distinct kinetic properties, and the proteins show no homology.[supplied by OMIM]

Human NT5C3 Protein General Information

 

• Protein names: Recommended name: Cytosolic 5'-nucleotidase 3
• Sequence length: 336 AA.
• Sequence similarities: Belongs to the pyrimidine 5'-nucleotidase family.
• Subunit structure: Monomer
• Involvement in disease: Defects in NT5C3 are the cause of P5N deficiency (P5ND) [MIM:266120]; also called hemolytic anemia due to P5N deficiency or hemolytic anemia due to UMPH1 deficiency. P5ND 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.
• Tissue specificity: Isoform 1 and isoform 3 are expressed in reticulocytes and lymphocytes. Isoform 4 is expressed only in reticulocytes.

General information above from UniProt

Function for NT5C3 Protein

UniProtKB:

Can act both as nucleotidase and as phosphotransferase.

Genatlas:

• NT5C3 catalyze the dephosphorylation of pyrimidine nucleoside monophosphate
• transferring phophate groups between pyrimidine monophosphates and varioux pririmidine nucleosides

Phenotype Information for NT5C3

• Gene/Locus: NT5C3, UMPH1, PSN1
• Phenotype: Anemia, hemolytic, due to UMPH1 deficiency

Phenotype Information for NT5C3 from OMIM (Online Mendelian Inheritance in Man)