Center for Bioinformatics
Oxidoreductases | Transferases | Hydrolases | Lyases | Isomerases | Ligases

Basic Information

Enzyme Number

Official Name


Name from literature


Pathway from literature

transformation of AMP to adenosine

Pathway from KEGG

Metabolism of Cofactors and Vitamins; Nicotinate and nicotinamide metabolism; map00760

Nucleotide Metabolism; Purine metabolism; map00230

Nucleotide Metabolism; Pyrimidine metabolism; map00240


Human (9606)

Genome localization

2p24.2[93034 ], 7p14.3[51251 ], 1p34.3-p33[84618 ], 17p11.2[56953 ], 6q14-q21[4907 ], 10q24.32-q24.33[22978 ], 17q25.1[30833 ],


Wide specificity for 5'-nucleotides.

Rate-limiting Description

"In H9c2 cells, in which 5'-nucleotidase activity was rate-limiting, only cN-II overexpression accelerated inosine and hypoxanthine formation." (10766785)

"Here, we determined the activities and mRNA levels of deoxynucleoside kinases (dNK) and 5'-nucleotidases (5'-NT) controlling the rate-limiting step in intracellular phosphorylation of NRTIs in cell models representing adipose, muscle tissue and peripheral blood cells using specific assays and Taqman RT-PCR." (15748706)

Regulatory Information

Regulatory type



"The cDNA of human cytosolic purine 5'-nucleotidase (EC, which is the supposed regulatory allosteric enzyme of purine nucleotide degradation, has been cloned from a human placenta cDNA library." (7999131#12667292)

transcriptional level;"TNF-alpha(7124),"

"Regulation of ecto-5'-nucleotidase by TNF-alpha in human endothelial cells." (12030367)







Gene ontology

Gene ontology

GO:0000287 (F) magnesium ion binding [Q96P26, Q969T7, Q9BXI3, Q9H0P0, P49902 ];
GO:0008270 (F) zinc ion binding [P21589 ];
GO:0005624 (C) membrane fraction [P21589 ];
GO:0008253 (F) 5'-nucleotidase activity [Q96P26, Q969T7, P21589, Q9BXI3, Q9H0P0, Q53Z63, P49902 ];
GO:0005737 (C) cytoplasm [Q96P26, Q969T7 ];
GO:0005829 (C) cytosol [Q9BXI3, P49902 ];
GO:0009166 (P) nucleotide catabolic process [P21589, Q53Z63 ];
GO:0009116 (P) nucleoside metabolic process [Q9BXI3 ];
GO:0016740 (F) transferase activity [Q969T7 ];
GO:0005783 (C) endoplasmic reticulum [Q9H0P0 ];
GO:0031225 (C) anchored to membrane [P21589 ];
GO:0000166 (F) nucleotide binding [Q96P26, Q969T7, P21589, Q9BXI3, Q9H0P0, Q53Z63, P49902 ];
GO:0005886 (C) plasma membrane [P21589 ];
GO:0006259 (P) DNA metabolic process [P21589 ];
GO:0008665 (F) 2'-phosphotransferase activity [Q9H0P0 ];
GO:0009117 (P) nucleotide metabolic process [Q96P26, Q969T7, Q9BXI3, Q9H0P0, P49902 ];
GO:0006213 (P) pyrimidine nucleoside metabolic process [Q9H0P0 ];
GO:0046872 (F) metal ion binding [Q53Z63 ];

Tissue expression

Tissue From HPRD

Thymus [00552 ];
Hematopoietic stem cell [05871 ];
Uterus [14844 ];
Cerebral cortex [00552 ];
Glomerulus [00552 ];
Leukocyte [00552 ];
Testis [11405, 14844 ];
Skeletal muscle [11405, 11833, 14844, 12009 ];
Liver [11405, 14844 ];
Myocardium [00552 ];
Brain [11405, 14844, 12009 ];
Spleen [00552 ];
B Cell [00552 ];
Intestinal epithelium [00552 ];
Dendritic cell [00552 ];
Vascular endothelial cell [00552 ];
Kidney [11405, 14844, 12009 ];
T Cell [00552 ];
Lung [11405, 14844 ];
Heart [11405, 11833, 14844, 12009 ];
Pancreas [11405, 11833, 14844, 12009 ];
Cerebellum [00552 ];
Placenta [00552, 11405, 02686, 11833, 14844 ];
Lymphocyte [05871 ];
Eosinophil [00552 ];

Tissue specificity

Isoform 1 and isoform 3 are expressed in reticulocytes and lymphocytes. Isoform 4 is expressed only in reticulocytes [Q9H0P0 ];

Highly expressed in skeletal muscle. Detected at intermediate levels in heart, brain, kidney and pancreas [Q9BXI3 ];

Highly expressed in testis, placenta and pancreas. Detected at lower levels in heart, kidney, liver and lung [Q96P26 ];

Subcellular localization


cell membrane [P21589 ];

endoplasmic reticulum [Q9H0P0 ];

cytoplasm [Q96P26, Q969T7, Q9BXI3, Q9H0P0, P49902 ];

Disease relevance


Aberration of this enzyme may be related to the urate production in hyperuricemia and gout [P49902 ];

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 [Q9H0P0 ];

There is a decrease in the activity of NT5 in B-cell chronic lymphocytic leukemia [P21589 ];



B3KQK1; P21589; P49902; Q53Z63; Q969T7; Q96P26; Q9BXI3; Q9H0P0

Entrez Gene

22978; 30833; 4907; 51251; 56953; 84618; 93034


00552; 11405; 12009; 14844; 05871; 11833; 02686

  Copyright 2009, Center for Bioinformatics 
  Last Modified: 2009-03-24  
  Design by Zhao Min