AAH71652.2
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
32,559 Da
NCBI Official Full Name
5'-nucleotidase, cytosolic III
NCBI Official Synonym Full Names
5'-nucleotidase, cytosolic IIIA
NCBI Official Synonym Symbols
p36; PN-I; POMP; PSN1; UMPH; NT5C3; P5N-1; UMPH1; hUMP1; P5'N-1; cN-III [Similar Products]
NCBI Protein Information
cytosolic 5'-nucleotidase 3A
UniProt Protein Name
Cytosolic 5'-nucleotidase 3A
UniProt Synonym Protein Names
7-methylguanosine phosphate-specific 5'-nucleotidase
UniProt Synonym Gene Names
NT5C3; P5N1; UMPH1; 7-methylguanosine nucleotidase; cN-III; P5'N-1; P5N-1; PN-I [Similar Products]
NCBI 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. [provided by RefSeq, Mar 2012]
UniProt Comments for NT5C3
NT5C3A: 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. Belongs to the pyrimidine 5'-nucleotidase family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Cofactor and Vitamin Metabolism - nicotinate and nicotinamide; EC 3.1.3.5; Endoplasmic reticulum; Nucleotide Metabolism - purine; Nucleotide Metabolism - pyrimidine; Phosphatase (non-protein); Transferase
Chromosomal Location of Human Ortholog: 7p14.3
Cellular Component: cytoplasm; cytosol; endoplasmic reticulum
Molecular Function: 2'-phosphotransferase activity; 5'-nucleotidase activity
Biological Process: pyrimidine nucleoside catabolic process
Disease: Uridine 5-prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Research Articles on NT5C3
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Pathways associated with anti-NT5C3 antibody
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