Purine metabolism (Homo sapiens)

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1238 steps involved(see right for details)Phosphoribosylpyrophosphate synthetase 1 defectsExample reaction with AO and XO involved(related to exogeneous metabolism)Subunit ofFAICARPRRM2BRRdADPAICARdGTPAMPD12-DeoxyguanosineADAGRM55-PRA6-oxopyrimidine metabolite M1Mg2+DGUOKPRPPADSLGDPAOS-AmphetamineATICadenineUrateAICARPGTPguanosineRibose-5-PPNPGMPHypoxanthine2'-DeoxyadenosineHPRT1GlnXanthineXanthosineAMPH2OPPATSAICAribosideAPRTIMPDH1SuccinyladenosinedAMPdGDPdATPauglurantPRPS1SAICARPdGMPInosinePRPPsADP2,8-DihydroxyadenineAdenosineXMPATPADSLGUANINEATP32'-deoxyinosineIMPPNPPNPXanthine oxidasePNPRRATICADAPNPHPRT1PRPPGARFGARFGAMAIRCAIRAICARPSACAIRGART(E1)GART(E2)PFASPAICS(E1)GART(E3)PAICS(E2)ADSLADPATPADPATPADPATPADPATPADPGluP(i)Mg2+P(i)GlnN(10)-formyl-THFTHFGlnH2OGluP(i)Mg2+P(i)Mg2+HCO3 -P(i)Mg2+P(i)AspMg2+FumarateXOP(i)Phosphoribosylpyrophosphate synthetase superactivityAdenyl- succinate lyase deficiencyMitochondrial ribonucleotide reductase subunit 2 deficiencyAdenine phospho-ribosyltransferase deficiencyAdenosine deaminasedeficiencyPurine nucleoside phosphorylase deficiencyXanthinuria, Type ILesch-Nyhan SyndromeKelley-Seegmiller SyndromeAdenosine deaminasedeficiencyAMP deaminase deficiencyLESCH-NYHAN SYNDROME; LNSIMP DEHYDROGENASE DEFICIENCYAICAr transformylase/IMP cyclohydrolase deficiencyPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYMITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3DEOXYGUANOSINE KINASEDEFICIENCYXANTHINURIA, TYPE IIPurine nucleoside phosphorylase deficiency


Overview of purine metabolism and related diseases. Disorders resulting from an enzyme defect are highlighted in pink, metabolic markers are highlighted in dark purple.

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 978-3-642-40337-8).

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Ontology Terms



  1. Blau, N., Duran, M., Gibson, K.M., Dionisi-Vici, C.; '''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Chapter 11'''; ISBN 978-3-642-40337-8,, 2014
  2. Su, H, Lenardo, M.; ''Chapter 5 Combined Immune Deficiencies''; https://doi.org/10.1016/B978-0-12-405546-9.00005-4, 2014
  3. 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 PubMed


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102860view13:59, 25 January 2019DdiglesModified description
102814view15:23, 24 January 2019DeSlChnaged Enzyme nomenclature to Uniprot for Xanthine oxidase
102676view09:22, 17 January 2019DeSlChanged interactions to graphical lines for diseases, and made them dashed iso solid.
98923view05:19, 16 October 2018EgonwModified description
98255view09:51, 15 August 2018DeSlModified description
98227view15:42, 13 August 2018Mkutmonfixed some linkouts, layout, naming
98226view14:48, 13 August 2018DeSlChanged last disease nodes to labels
98225view14:26, 13 August 2018DeSlChanged more disease nodes to labels
98224view14:11, 13 August 2018DeSlChanged first diseases into labels with URLs to OMIM
98223view14:04, 13 August 2018DeSlChanged interaction arrows from PRPP to AICARP, to connect proper with right part of PW
96677view15:15, 26 March 2018EgonwReplaced secondary ChEBI identifiers with primary identifiers.
96665view13:08, 25 March 2018DeSlRemoved unnecessary symbols in lit. ref
96664view13:06, 25 March 2018DeSlModified description
96663view13:05, 25 March 2018DeSlAdded more IDs, connected PNP enzyme to 2 known diseases (bottom).
96662view13:02, 25 March 2018DeSlAdded more IDs for right side of PW.
96638view14:51, 24 March 2018DeSlAdded IDs for proteins on right side.
96637view14:42, 24 March 2018DeSlAdded IDs for metabolites on the right.
96636view14:33, 24 March 2018DeSlChecked last diseases
96635view14:16, 24 March 2018DeSlChanged layout more
96634view14:06, 24 March 2018DeSlAdded more OMIM IDs
96633view13:06, 24 March 2018DeSlChanged layout + location of dGUOK related disease
96618view15:25, 23 March 2018DeSlChanged layout more for readability
96617view15:18, 23 March 2018DeSlModified description
96616view15:14, 23 March 2018DeSlModified description
96615view15:13, 23 March 2018DeSlAdded link to Xanthinuria Type II disease through specific metabolic conversion with AO and XO -proteins involved.
96614view14:57, 23 March 2018DeSlAdded 8 steps between PRPP and SAICARP
96613view14:03, 23 March 2018DeSlChanging layout, adding marker information.
96554view21:26, 17 March 2018DeSlOntology Term : 'purine nucleoside phosphorylase deficiency pathway' added !
96553view21:25, 17 March 2018DeSlOntology Term : 'adenylosuccinase lyase deficiency' added !
96552view21:23, 17 March 2018DeSlOntology Term : 'Lesch-Nyhan syndrome pathway' added !
96551view21:23, 17 March 2018DeSlOntology Term : 'Lesch-Nyhan syndrome' added !
96550view21:23, 17 March 2018DeSlOntology Term : 'xanthinuria disease pathway, type II' added !
96549view21:22, 17 March 2018DeSlOntology Term : 'mitochondrial DNA depletion syndrome 3' added !
96548view21:20, 17 March 2018DeSlOntology Term : 'adenosine monophosphate deaminase deficiency pathway' added !
96547view21:19, 17 March 2018DeSlOntology Term : 'adenine phosphoribosyltransferase deficiency' added !
96538view21:13, 17 March 2018DeSlOntology Term : 'purine metabolic pathway' added !
96537view21:12, 17 March 2018DeSlOntology Term : 'inborn error purine-pyrimidine metabolism disease pathway' added !
96533view21:04, 17 March 2018DeSlAdded lit. reference
96532view21:00, 17 March 2018DeSlChanged KEGG genes datasource to Enzyme Nomenclature, removed EC for ID number.
96529view20:55, 17 March 2018DeSlAdded OMIM IDs for diseases
96272view16:22, 3 March 2018EgonwPNP is a metabolite.
96265view22:14, 2 March 2018RoelOntology Term : 'adenosine deaminase deficiency' added !
96264view22:13, 2 March 2018RoelNew pathway

External references


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NameTypeDatabase referenceComment
2'-DeoxyadenosineMetaboliteCHEBI:17256 (ChEBI)
2'-deoxyinosineMetaboliteCHEBI:28997 (ChEBI)
2,8-DihydroxyadenineMetaboliteQ4596812 (Wikidata)
2-DeoxyguanosineMetaboliteCHEBI:17172 (ChEBI)
5-PRAMetabolite439905 (PubChem-compound)
6-oxopyrimidine metabolite M1Metabolite
ADAProteinENSG00000196839 (Ensembl)
ADPMetaboliteCHEBI:16761 (ChEBI)
ADPMetaboliteQ185253 (Wikidata) Co-enzyme
ADSLProteinA0A096LNY4 (Uniprot-TrEMBL)
AICARMetaboliteCHEBI:2030 (ChEBI)
AICARPMetaboliteCHEBI:18406 (ChEBI)
AIRMetaboliteCHEBI:138560 (ChEBI)
AMPMetaboliteCHEBI:16027 (ChEBI)
AMPD1GeneProductENSG00000116748 (Ensembl)
AOProtein1.2.3.1 (Enzyme Nomenclature) Aldehyde oxidase (AO) is a metabolizing enzyme, located in the cytosolic compartment of tissues in many organisms. AO catalyzes the oxidation of aldehydes into carboxylic acid, and in addition, catalyzes the hydrozylation of some heterocycles.[1] It can also catalyze the oxidation of both cytochrome P450 (CYP450) and monoamine oxidase (MAO) intermediate products. AO plays a very important role in the metabolization of numerous drugs.
ATICGeneProductENSG00000138363 (Ensembl)
ATPMetaboliteCHEBI:30616 (ChEBI)
ATPMetaboliteQ80863 (Wikidata) Co-enzyme
AdenosineMetaboliteCHEBI:16335 (ChEBI)
AspMetaboliteQ178450 (Wikidata) Substrate
CAIRMetaboliteCHEBI:28413 (ChEBI)
DGUOKGeneProductENSG00000114956 (Ensembl)
FAICARPMetaboliteCHEBI:18381 (ChEBI)
FGAMMetabolite5462266 (PubChem-compound)
FGARMetabolite130805 (PubChem-compound)
FumarateMetaboliteQ139857 (Wikidata) Substrate
GARMetabolite160913 (PubChem-compound)
GART(E1)Protein2.1.2.2 (Enzyme Nomenclature)
GART(E2)Protein2.1.2.2 (Enzyme Nomenclature)
GART(E3)Protein2.1.2.2 (Enzyme Nomenclature)
GDPMetaboliteCHEBI:17552 (ChEBI)
GMPMetaboliteCHEBI:17345 (ChEBI)
GRM5ProteinP41594 (Uniprot-TrEMBL) Metabotropic glutamate receptor 5
GTPMetaboliteCHEBI:37565 (ChEBI)
GUANINEMetaboliteCHEBI:16235 (ChEBI)
GlnMetaboliteQ181619 (Wikidata) Substrate
GluMetaboliteCHEBI:16015 (ChEBI) Substrate
H2OMetaboliteCHEBI:15377 (ChEBI) Inorganic molecules
HCO3 -MetaboliteQ409202 (Wikidata) Inorganic molecules
HPRT1GeneProductENSG00000165704 (Ensembl)
HypoxanthineMetaboliteQ410305 (Wikidata)
IMPMetaboliteCHEBI:17202 (ChEBI)
IMPDH1GeneProductENSG00000106348 (Ensembl)
InosineMetaboliteCHEBI:17596 (ChEBI)
Mg2+MetaboliteQ26987404 (Wikidata) Metal Ion
N(10)-formyl-THFMetaboliteQ27098160 (Wikidata) Co-enzyme
P(i)MetaboliteQ177811 (Wikidata) Inorganic molecules
PAICS(E1)Protein10606 (NCBI Protein)
PAICS(E2)Protein10606 (NCBI Protein)
PFASProtein5198 (NCBI Protein)
PNPGeneProductCHEBI:16836 (ChEBI)
PPATProteinQ06203 (Uniprot-TrEMBL)
PRPPMetaboliteCHEBI:17111 (ChEBI)
PRPPsGeneProduct2.7.6.1 (Enzyme Nomenclature)
PRPS1ProteinP60891 (Uniprot-TrEMBL)
RRGeneProduct1.17.4.1 (Enzyme Nomenclature)
RRM2BProteinQ7LG56 (Uniprot-TrEMBL)
Ribose-5-PMetaboliteCHEBI:52742 (ChEBI)
S-AmphetamineMetaboliteCHEBI:4469 (ChEBI)
SACAIRMetaboliteCHEBI:18319 (ChEBI)
SAICARPMetaboliteCHEBI:18319 (ChEBI)
SAICAribosideMetaboliteCHEBI:18319 (ChEBI)
SuccinyladenosineMetaboliteHMDB00912 (HMDB)
THFMetaboliteQ168453 (Wikidata) Co-enzyme
UrateMetaboliteCHEBI:17775 (ChEBI)
XMPMetaboliteCHEBI:15652 (ChEBI)
XOGeneProductQ412509 (Wikidata) aka Xanthine oxidase
Xanthine oxidaseGeneProductP47989 (Uniprot-TrEMBL)
XanthineMetaboliteCHEBI:17712 (ChEBI)
XanthosineMetaboliteCHEBI:18107 (ChEBI)
adenineMetaboliteCHEBI:16708 (ChEBI)
auglurantMetaboliteVU0424238 (VU238, auglurant) aka N-(5-fluoropyridin-2-yl)-6-methyl-4-(pyrimidin-5-yloxy)picolinamide
dADPMetaboliteCHEBI:16174 (ChEBI)
dAMPMetaboliteCHEBI:17713 (ChEBI)
dATPMetaboliteCHEBI:16284 (ChEBI)
dGDPMetaboliteCHEBI:28862 (ChEBI)
dGMPMetaboliteCHEBI:16192 (ChEBI)
dGTPMetaboliteCHEBI:16497 (ChEBI)
guanosineMetaboliteCHEBI:16750 (ChEBI)

Annotated Interactions

No annotated interactions

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