MGP Database

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MGP001495

UniProt Annotations

Entry Information
Gene Namehypoxanthine phosphoribosyltransferase 1
Protein EntryHPRT_HUMAN
UniProt IDP00492
SpeciesHuman
Comments
Comment typeDescription
Biophysicochemical PropertiesKinetic parameters: KM=5.4 uM for IMP {ECO:0000269|PubMed:10338013}; KM=0.45 uM for hypoxanthine {ECO:0000269|PubMed:10338013}; KM=25 uM for pyrophosphate {ECO:0000269|PubMed:10338013}; KM=31 uM for phosphoribosylpyrophosphate {ECO:0000269|PubMed:10338013};
Catalytic ActivityGMP + diphosphate = guanine + 5-phospho-alpha- D-ribose 1-diphosphate.
Catalytic ActivityIMP + diphosphate = hypoxanthine + 5-phospho- alpha-D-ribose 1-diphosphate.
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Binds 2 magnesium ions per subunit. The magnesium ions are essentially bound to the substrate and have few direct interactions with the protein.;
DiseaseGout HPRT-related (GOUT-HPRT) [MIM:300323]: Characterized by partial enzyme activity and hyperuricemia. {ECO:0000269|PubMed:15571223, ECO:0000269|PubMed:17027311, ECO:0000269|PubMed:20544509, ECO:0000269|PubMed:24940672, ECO:0000269|PubMed:2909537, ECO:0000269|PubMed:3198771, ECO:0000269|PubMed:3358423, ECO:0000269|PubMed:6572373, ECO:0000269|PubMed:6706936, ECO:0000269|PubMed:6853490, ECO:0000269|Ref.42}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseLesch-Nyhan syndrome (LNS) [MIM:300322]: Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self- mutilation. {ECO:0000269|PubMed:15571223, ECO:0000269|PubMed:17027311, ECO:0000269|PubMed:2071157, ECO:0000269|PubMed:2246854, ECO:0000269|PubMed:2347587, ECO:0000269|PubMed:2358296, ECO:0000269|PubMed:24940672, ECO:0000269|PubMed:2910902, ECO:0000269|PubMed:3265398, ECO:0000269|PubMed:3384338, ECO:0000269|PubMed:6853716, ECO:0000269|PubMed:7627191, ECO:0000269|PubMed:9452051}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionConverts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5- phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway.
InteractionQ96HA8:WDYHV1; NbExp=3; IntAct=EBI-748210, EBI-741158;
PathwayPurine metabolism; IMP biosynthesis via salvage pathway; IMP from hypoxanthine: step 1/1.
SimilarityBelongs to the purine/pyrimidine phosphoribosyltransferase family. {ECO:0000305}.
Subcellular LocationCytoplasm.
SubunitHomotetramer. {ECO:0000269|PubMed:10338013, ECO:0000269|PubMed:10360366, ECO:0000269|PubMed:15990111, ECO:0000269|PubMed:8044844}.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/hprt1/";
Web ResourceName=Wikipedia; Note=Hypoxanthine-guanine phosphoribosyltransferase entry; URL="http://en.wikipedia.org/wiki/Hypoxanthine-guanine_phosphoribosyltransferase";
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