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Description for Protein PNP

purine nucleoside phosphorylase
9 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 9/1)
(membrane: 1; microparticles: 1; platelet: 6; secretome: 1; undefined: 1)
Summary:
This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
2.4.2.1
KEGG - Orthology:
K03783
KEGG - Pathway(s):
hsa00230; hsa00240; hsa00760; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Purine-nucleoside:orthophosphate ribosyltransferase; Purine nucleoside phosphorylase; Orthophosphate ribosyltransferase; PNP
Approved Symbol:
PNP
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 3
Human (de-) phosphorylation sites: 3; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • 1,4-Dideoxy-4-Aza-1-(S)-(9-Deazahypoxanthin-9-Yl)-D-Ribitol(db);
  • 2'3'-Dideoxyinosine(db);
  • 2,6-Diamino-(S)-9-[2-(Phosphonomethoxy)Propyl]Purine(db);
  • 2-amino-7-(pyridin-3-ylmethyl)-3,5-dihydro-4H-pyrrolo[3,2-d]pyrimidin-4-one(db);
  • 2-Amino-7-[2-(2-Hydroxy-1-Hydroxymethyl-Ethylamino)-Ethyl]-1,7-Dihydro-Purin-6-One(db);
  • 3-Deoxyguanosine(db);
  • 4'-Deaza-1'-Aza-2'-Deoxy-1'-(9-Methylene)-Immucillin-H, (3r,4r)-N-[9-Deazahypoxanthin-9-Yl)Methyl]-4-Hydroxymethyl-Pyrrolidin-3-Ol(db);
  • 8-Azaguanine(db);
  • 9-(5,5-Difluoro-5-Phosphonopentyl)Guanine(db);
  • 9-Deazainosine(db);
  • 9-DEAZAINOSINE-2',3'-O-ETHYLIDENEPHOSPHONATE(db);
  • Cladribine(db);
  • Guanine(db);
  • Guanosine(db);
  • GUANOSINE-2',3'-O-ETHYLIDENEPHOSPHONATE(db);
  • GUANOSINE-2',3'-O-METHYLIDENEPHOSPHONATE(db);
  • Hypoxanthine(db);
  • Immucillin-G(db);
  • MT-Immucillin-H(db);
  • Peldesine(db);
  • Ribose-1-Phosphate(db)

    Associated Genetic Diseases:

  • Nucleoside phosphorylase deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01247 Entrez Gene ID: 4860 OMIM ID: 164050 Swissprot Accession: P00491;