hypoxanthine-guanine phosphoribosyltransferase (HPRT)

GPTKB entity

Statements (29)
Predicate Object
gptkbp:instanceOf gptkb:enzyme
gptkbp:alternativeName HPRT
guanine phosphoribosyltransferase
hypoxanthine phosphoribosyltransferase
gptkbp:catalyzes conversion of guanine to guanosine monophosphate (GMP)
conversion of hypoxanthine to inosine monophosphate (IMP)
gptkbp:deficiencyCauses gptkb:Lesch-Nyhan_syndrome
hyperuricemia
gptkbp:EC_number 2.4.2.8
gptkbp:encodedBy gptkb:HPRT1_gene
gptkbp:foundIn humans
mammals
gptkbp:function purine salvage pathway
gptkbp:gene HPRT1
gptkbp:HGNC_ID 5157
https://www.w3.org/2000/01/rdf-schema#label hypoxanthine-guanine phosphoribosyltransferase (HPRT)
gptkbp:locatedOnChromosome Xq26.1
gptkbp:molecularWeight ~25 kDa
gptkbp:OMIM 308000
gptkbp:PDB 1HMP
gptkbp:product guanosine monophosphate (GMP)
inosine monophosphate (IMP)
gptkbp:structure monomer or dimer
gptkbp:substrate gptkb:hypoxanthine
guanine
phosphoribosyl pyrophosphate (PRPP)
gptkbp:UniProtID P00492
gptkbp:bfsParent gptkb:Nyhan_syndrome
gptkbp:bfsLayer 7