MGP Database

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MGP002121

UniProt Annotations

Entry Information
Gene Namepurine nucleoside phosphorylase
Protein EntryPNPH_HUMAN
UniProt IDP00491
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityPurine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate.
DiseasePurine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]: A disorder that interrupts both the catabolism of inosine into hypoxanthine and guanosine into guanine, and leads to the accumulation of guanosine, inosine, and their deoxified by- products. The main clinical presentation is recurrent infections due to severe T-cell immunodeficiency. Some patients also have neurologic impairment. {ECO:0000269|PubMed:1384322, ECO:0000269|PubMed:3029074, ECO:0000269|PubMed:8931706}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThe purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in the beta- (deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate. {ECO:0000269|PubMed:2104852}.
PathwayPurine metabolism; purine nucleoside salvage.
SimilarityBelongs to the PNP/MTAP phosphorylase family. {ECO:0000305}.
Subcellular LocationCytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm {ECO:0000269|PubMed:22509282}.
SubunitHomotrimer.
Tissue SpecificityExpressed in red blood cells; overexpressed in red blood cells (cytoplasm) of patients with hereditary non- spherocytic hemolytic anemia of unknown etiology. {ECO:0000269|PubMed:22509282}.
Web ResourceName=NPbase; Note=NP mutation db; URL="http://structure.bmc.lu.se/idbase/NPbase/";
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