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Description for Protein HPRT1

hypoxanthine phosphoribosyltransferase 1
7 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 6/0)
(cAMP/cGMP binding: 1; microparticles: 1; platelet: 3; secretome: 1)
Summary:
The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout. (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
2.4.2.8
KEGG - Orthology:
K00760
KEGG - Pathway(s):
hsa00230; hsa00983; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
HPRT; HGPRT; Hypoxanthine-guanine phosphoribosyltransferase; HGPRTase
Approved Symbol:
HPRT1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 4
Human (de-) phosphorylation sites: 4; 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):

  • 3h-Pyrazolo[4,3-D]Pyrimidin-7-Ol(db);
  • 5--Monophosphate-9-Beta-D-Ribofuranosyl Xanthine(db);
  • 9-Deazaguanine(db);
  • Alpha-Phosphoribosylpyrophosphoric Acid(db);
  • Azathioprine(db);
  • Mercaptopurine(db);
  • Pyrophosphate 2-(db)

    Associated Genetic Diseases:

  • Gout, HPRT-related(Pd);
  • HPRT deficiency, partial(Pd);
  • Lesch-Nyhan syndrome(Pd);
  • Lesch-Nyhan syndrome, neurologic variant(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02388 Entrez Gene ID: 3251 OMIM ID: 308000 Swissprot Accession: P00492;