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Details on Person Defective HPRT1 does not convert guanine or hypoxanthine to GMP or IMP

Class:Id	FailedReaction:9734274
_displayName	Defective HPRT1 does not convert guanine or hypoxanthine to GMP or IMP
_doRelease	TRUE
_timestamp	2022-03-01 19:00:20
authored	[InstanceEdit:9735771] D'Eustachio, Peter, 2021-07-02
catalystActivity	[CatalystActivity:9734295] purine phosphoribosyltransferase activity of HPRT1 tetramer mutants [cytosol]
catalystActivityReference	[CatalystActivityReference:9734288] purine phosphoribosyltransferase activity of HPRT1 tetramer mutants [cytosol] Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9734263] D'Eustachio, Peter, 2021-06-16
disease	[Disease:9734170] Lesch-Nyhan syndrome
edited	[InstanceEdit:9736402] Jassal, Bijay, 2021-07-09
entityFunctionalStatus	[EntityFunctionalStatus:9734283] loss_of_function of HPRT1 tetramer mutants [cytosol]
input	[DefinedSet:500259] Gua, Hyp [cytosol] [SimpleEntity:73566] PRPP [cytosol]
isChimeric	FALSE
literatureReference	[LiteratureReference:9734273] Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts [LiteratureReference:9734270] Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene [LiteratureReference:9734294] A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease [LiteratureReference:9734289] Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients
modified	[InstanceEdit:9734306] D'Eustachio, Peter, 2021-06-16 [InstanceEdit:9736404] D'Eustachio, Peter, 2021-07-09 [InstanceEdit:9757301] D'Eustachio, Peter, 2021-10-28 [InstanceEdit:9757728] D'Eustachio, Peter, 2021-11-04 [InstanceEdit:9758278] D'Eustachio, Peter, 2021-11-09 [InstanceEdit:9764258] D'Eustachio, Peter, 2022-02-10 [InstanceEdit:9764573] D'Eustachio, Peter, 2022-02-11 [InstanceEdit:9767862] D'Eustachio, Peter, 2022-03-01 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective HPRT1 does not convert guanine or hypoxanthine to GMP or IMP
normalReaction	[Reaction:74215] HPRT1 catalyzes the conversion of guanine or hypoxanthine to GMP or IMP [Homo sapiens]
precedingEvent	[Reaction:74242] PNP catalyzes the conversion of (deoxy)inosine to hypoxanthine and (deoxy)ribose [Homo sapiens] [Reaction:74241] ADA catalyzes the deamination of (deoxy)adenosine [Homo sapiens] [Reaction:74249] PNP catalyzes the conversion of (deoxy)guanosine to guanine and (deoxy)ribose [Homo sapiens] [Reaction:74248] (d)GMP or (d)IMP + H2O => (2'-deoxy)guanosine or (2'-deoxy)inosine + orthophosphate (NT5C2) [Homo sapiens]
releaseDate	2022-03-23
reviewed	[InstanceEdit:9736402] Jassal, Bijay, 2021-07-09
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9734301] R-HSA-9734274.2
summation	[Summation:9734285] Normally in humans, guanine and hypoxanthine can be salvaged...
(hasEvent)	[Pathway:9734281] Defective HPRT1 disrupts guanine and hypoxanthine salvage [Homo sapiens]
(precedingEvent)	[Reaction:74247] XDH oxidizes hypoxanthine to form xanthine [Homo sapiens] [Reaction:74255] Guanine + H2O => Xanthine + NH4+ [Homo sapiens] [Reaction:9727347] XDH dehydrogenates hypoxanthine to form xanthine [Homo sapiens]
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