Purine metabolism (Homo sapiens)

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213Example reaction with AO and XO involved(related to exogeneous metabolism)8 steps involved(see right for details)Subunit ofPhosphoribosylpyrophosphate synthetase 1 defectsH2OdADPSAICARPHPRT1PRPPdATP6-oxopyrimidine metabolite M1dGTPXanthosineMg2+dGDP2,8-DihydroxyadenineAMPRibose-5-PadeninePNPRRM2BGRM5GDPdGMPADSLXMPguanosineAICARADSLdAMPGTPAOAICARPADPSuccinyladenosineATPGMPPRPPs2'-DeoxyadenosinePRPS15-PRAXanthineS-AmphetaminePPATGlnADAAMPD1UrateATICDGUOKAPRTINOSINEIMPDH12-DeoxyguanosineFAICARPauglurantATPGUANINERRSAICAribosideAdenosinehypoxanthine12'-deoxyinosineIMPPNPPNPXOPNPRRATICAdenosine deaminasePNPHPRT1PRPPGARFGARFGAMAIRCAIRAICARPSACAIRGART(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 DEFICIENCYADENYL- SUCCINATE LYASE DEFICIENCYMitochondrial ribonucleotide reductase subunit 2 deficiencyADENINE PHOSPHO-RIBOSYLTRANSFERASE DEFICIENCYADENOSINE DEAMINASEPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYXANTHINURIA, TYPE IXANTHINURIA, TYPE ILESCH-NYHAN SYNDROMEHYPOXANTHINE-GUANINEPHOSPHORIBOSYL-TRANSFERASEDECICIENCYADENOSINE DEAMINASEDEFICIENCYAMP deaminase deficiencyPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYPURINE NUCLEOSIDE PHOSPHORYLASE 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 II


Description

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 Adapted from: https://en.wikipedia.org/wiki/Purine_metabolism).

The color scheme is as follows: enzymes(black), coenzymes(light orange), regular substrates/metabolites(blue), additional substrates(dark green), metal ions(turquoise), inorganic molecules(light purple).

Quality Tags

Ontology Terms

 

Bibliography

  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 PubMed Europe PMC
  2. 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
  3. Su, H, Lenardo, M.; ''Chapter 5 Combined Immune Deficiencies''; https://doi.org/10.1016/B978-0-12-405546-9.00005-4, 2014

History

View all...
CompareRevisionActionTimeUserComment
107302view12:23, 19 September 2019DeSlModified description
107301view12:20, 19 September 2019DeSlUpdated layout
107161view14:24, 17 September 2019MaintBotChEBI identifier normalization
106527view23:48, 5 September 2019KhanspersModified description
105796view22:47, 15 August 2019KhanspersModified description
104773view07:31, 13 June 2019JosienlandmanCorrected the identifier for AICA-riboside
104517view13:13, 29 May 2019JosienlandmanCorrected one Rhea identifier and one OMIM number
104472view12:26, 28 May 2019EgonwConverted another interaction to a graphical line.
104448view13:52, 27 May 2019JosienlandmanChanged interaction to graphicalline
104443view07:48, 27 May 2019Josienlandman
104422view10:58, 24 May 2019JosienlandmanComment for 5-PRA and GAR
104419view09:08, 24 May 2019JosienlandmanAdded enzyme ADSS and identifiers
104388view13:15, 23 May 2019JosienlandmanUnconnected line from AMP to IMP
104386view12:49, 23 May 2019JosienlandmanModified the ChEBI for 5-PRA and added a comment to this datanode.
104381view10:37, 23 May 2019JosienlandmanAdded more Rhea identifiers and modified Chebi identifiers
104374view13:01, 22 May 2019JosienlandmanAdded Rhea identifiers to reactions and changed Chebi identifiers
104030view17:42, 25 April 2019IreneHemelModified description
103969view11:03, 18 April 2019JosienlandmanAdded identifier to AICAR
103967view09:09, 18 April 2019JosienlandmanConnected Adenyl-succinate lyase deficiency to the conversion of SAICARP to AICARP
103966view08:45, 18 April 2019IreneHemelRemoved capitals in Guanine name
103964view08:18, 18 April 2019IreneHemelConnected TPMT deficiency to rest of pathway
103963view07:52, 18 April 2019IreneHemelChanged lines for 2 diseases to graphical line
103962view07:50, 18 April 2019IreneHemelChanged layout for reaction from ITP to IMP
103915view15:05, 15 April 2019IreneHemelModified description
103913view15:01, 15 April 2019IreneHemelModified description
103911view14:01, 15 April 2019JosienlandmanAdded Allopurinol, XO inhibitor, to distinguish Xanthinuria type I and type II
103857view11:38, 11 April 2019IreneHemelChanged arrows to conversions
103856view11:36, 11 April 2019IreneHemelAdded two diseases and reactions involved in these
103851view09:42, 11 April 2019DeSlChanged Uniprot Swissprot annotation to Trembl
103847view06:06, 11 April 2019IreneHemelChanged spelling error
103810view08:07, 9 April 2019IreneHemelChanged datanodes for enzymes from geneproduct to protein; added Uniprot IDs; Removed disease node present for one disease under two different names
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

External references

DataNodes

View all...
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
ADAProteinF5GYD4 (Uniprot-TrEMBL) aka Adenosine deaminase
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.
APRTGeneProductAPRT (HGNC)
ATICGeneProductENSG00000138363 (Ensembl)
ATPMetaboliteCHEBI:30616 (ChEBI)
ATPMetaboliteQ80863 (Wikidata) Co-enzyme
Adenosine deaminaseProteinF5GYD4 (Uniprot-TrEMBL)
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)
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)
XOGeneProduct1.17.3.2 (Enzyme Nomenclature)
XOGeneProductQ412509 (Wikidata) aka Xanthine oxidase
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)
hypoxanthineMetaboliteQ410305 (Wikidata)

Annotated Interactions

No annotated interactions

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