Purine metabolism and related disorders (WP4224)

Overview of purine metabolism and related diseases. Disorders resulting from an enzyme defect are highlighted in pink, metabolic markers are highlighted in red. Arrows indicate the directionality of chemical conversions. On the right, the biosynthesis of IMP is depicted in more detail (adapted from: https://en.wikipedia.org/wiki/Purine_metabolism). The color scheme for this part of the pathway is as follows: enzymes(black), coenzymes(light orange), regular substrates/metabolites(blue), additional substrates(dark green), metal ions(turquoise), inorganic molecules(light purple). This pathway was inspired by Chapter 41 of the book of Blau (ISBN 3642403360 (978-3642403361)). A similar version without the disorders and with biomarkers visualised with arrows can be found [https://www.wikipathways.org/instance/WP4792 here]. Proteins on this pathway have targeted assays available via the [https://assays.cancer.gov/available_assays?wp_id=WP4224 CPTAC Assay Portal]
last edited

Authors

Roel, Egonw, DeSl, Mkutmon, Ddigles, IreneHemel, Josienlandman, Khanspers, MaintBot, Finterly, and Fehrhart

Cited In

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Organism

Homo sapiens

Communities

Inborn Errors of Metabolism (IEM) Pathways Rare Diseases

Annotations

Disease Ontology: mitochondrial DNA depletion syndrome 3 Lesch-Nyhan syndrome adenosine deaminase deficiency adenylosuccinase lyase deficiency adenine phosphoribosyltransferase deficiency

Pathway Ontology: Lesch-Nyhan syndrome pathway disease pathway purine nucleoside phosphorylase deficiency pathway inborn error of purine-pyrimidine metabolism pathway purine metabolic pathway adenosine monophosphate deaminase deficiency pathway xanthinuria type II pathway

Participants

Label Type Compact Identifier
PRPP Metabolite chebi:17111
ATP Metabolite chebi:30616
XMP Metabolite chebi:57464
Methionine Metabolite chebi:57844
AO Protein uniprot:Q06278
SAICARP Metabolite chebi:58443
Mg2+ Metabolite wikidata:Q26987404
AICA-riboside Metabolite chebi:28498
6-oxopyrimidine metabolite M1 Metabolite None
5-PRA Metabolite chebi:58681
APRT Protein uniprot:P07741
Methionine metabolism and disorders Pathway wikipathways:WP4292
AMP Metabolite chebi:456215
Xanthosine Metabolite chebi:18107
2-Deoxyadenosine Metabolite ChEBI
Inosine Metabolite ChEBI
RRM2B Protein Uniprot-TrEMBL
GDP Metabolite ChEBI
ATIC Protein Uniprot-TrEMBL
Ribose-5-P Metabolite ChEBI
6-methylthiopurine Metabolite ChEBI
SAICA-riboside Metabolite ChEBI
ADA Protein Uniprot-TrEMBL
dGDP Metabolite ChEBI
Succinyladenosine Metabolite ChEBI
ADSL Protein Uniprot-TrEMBL
GRM5 Protein Uniprot-TrEMBL
MAT2A Protein Uniprot-TrEMBL
dATP Metabolite ChEBI
ATP Metabolite Wikidata
AICARP Metabolite ChEBI
2,8-Dihydroxyadenine Metabolite Wikidata
dADP Metabolite ChEBI
Adenosine Metabolite ChEBI
dAMP Metabolite ChEBI
Gln Metabolite Wikidata
ITP Metabolite ChEBI
PRPS1 Protein Uniprot-TrEMBL
ADSS Protein Uniprot-TrEMBL
Hypoxanthine Metabolite ChEBI
Guanosine Metabolite ChEBI
auglurant Metabolite InChIKey
ADSL Protein Uniprot-TrEMBL
SAM Metabolite ChEBI
PRPPs Protein Enzyme Nomenclature
IMPDH1 Protein Uniprot-TrEMBL
HPRT1 Protein Uniprot-TrEMBL
S-AMP Metabolite ChEBI
H2O Metabolite ChEBI
Xanthine Metabolite ChEBI
ADP Metabolite ChEBI
DGUOK Protein Uniprot-TrEMBL
GTP Metabolite ChEBI
dGTP Metabolite ChEBI
AMPD1 Protein Uniprot-TrEMBL
Mercaptopurine Metabolite ChEBI
Urate Metabolite ChEBI
PNP Protein Uniprot-TrEMBL
ITPA Protein Uniprot-TrEMBL
Adenine Metabolite ChEBI
Guanine Metabolite ChEBI
RR Protein Enzyme Nomenclature
PPAT Protein Uniprot-TrEMBL
TPMT Protein Uniprot-TrEMBL
dGMP Metabolite ChEBI
FAICARP Metabolite ChEBI
2-Deoxyguanosine Metabolite ChEBI
GMP Metabolite ChEBI
2-deoxyinosine Metabolite chebi:28997
IMP Metabolite chebi:58053
PNP Protein uniprot:P00491
PNP Protein uniprot:P00491
XO Protein uniprot:P47989
PNP Protein uniprot:P00491
RR Protein eccode:1.17.4.1
ATIC Protein uniprot:P31939
ADA Protein uniprot:P00813
PNP Protein uniprot:P00491
HPRT1 Protein uniprot:P00492
PRPP Metabolite chebi:58017
GAR Metabolite chebi:58457
FGAR Metabolite chebi:58426
FGAM Metabolite chebi:58478
AIR Metabolite chebi:137981
CAIR Metabolite chebi:77657
AICARP Metabolite chebi:58475
SACAIR Metabolite chebi:58443
GART(E1) Protein uniprot:P22102
GART(E2) Protein uniprot:P22102
PFAS Protein uniprot:O15067
PAICS(E1) Protein uniprot:P22234
GART(E3) Protein uniprot:P22102
PAICS(E2) Protein uniprot:P22234
ADSL Protein uniprot:P30566
ADP Metabolite wikidata:Q185253
ATP Metabolite wikidata:Q80863
ADP Metabolite wikidata:Q185253
ATP Metabolite wikidata:Q80863
ADP Metabolite wikidata:Q185253
ATP Metabolite wikidata:Q80863
ADP Metabolite wikidata:Q185253
ATP Metabolite wikidata:Q80863
ADP Metabolite wikidata:Q185253
Glu Metabolite chebi:16015
P(i) Metabolite wikidata:Q177811
Mg2+ Metabolite wikidata:Q26987404
P(i) Metabolite wikidata:Q177811
Gln Metabolite wikidata:Q181619
N(10)-formyl-THF Metabolite wikidata:Q27098160
THF Metabolite wikidata:Q168453
Gln Metabolite wikidata:Q181619
H2O Metabolite chebi:15377
Glu Metabolite chebi:16015
P(i) Metabolite wikidata:Q177811
Mg2+ Metabolite wikidata:Q26987404
P(i) Metabolite wikidata:Q177811
Mg2+ Metabolite wikidata:Q26987404
HCO3 - Metabolite wikidata:Q409202
P(i) Metabolite wikidata:Q177811
Mg2+ Metabolite wikidata:Q26987404
P(i) Metabolite wikidata:Q177811
Asp Metabolite wikidata:Q178450
Mg2+ Metabolite wikidata:Q26987404
Fumarate Metabolite wikidata:Q139857
XO Protein uniprot:P47989
P(i) Metabolite wikidata:Q177811
XO Protein uniprot:P47989
PNP Protein uniprot:P00491

References

  1. Crouch RD, Blobaum AL, Felts AS, Conn PJ, Lindsley CW. Species-Specific Involvement of Aldehyde Oxidase and Xanthine Oxidase in the Metabolism of the Pyrimidine-Containing mGlu5-Negative Allosteric Modulator VU0424238 (Auglurant). Drug Metab Dispos. 2017 Dec;45(12):1245–59. PubMed Europe PMC Scholia
  2. PubMed Europe PMC Scholia