Purine metabolism and related disorders (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 ofATICIMPDH1AdenosineMg2+dAMPATPATP5-PRAUrate2'-DeoxyadenosineAICARSuccinyladenosinedADPXanthosineSAICAribosideGUANINEdATPGDPPRPPPNPRibose-5-PFAICARPS-AmphetamineAOauglurant6-oxopyrimidine metabolite M1GRM5GlndGTPSAICARP2,8-DihydroxyadenineGTPADSLXMPDGUOKINOSINEhypoxanthineAMPADPH2OAPRTPRPS1dGDPGMPadenineRRdGMPRRM2BXanthineAMPD12-DeoxyguanosineADSLAICARPPRPPsPPATADAHPRT1guanosine22'-deoxyinosineIMPPNPPNPXOPNPRRATICAdenosine deaminasePNPAICAr transformylase/IMP cyclohydrolase deficiencyAMP deaminase deficiencyIMP DEHYDROGENASE DEFICIENCYADENOSINE DEAMINASEDEFICIENCYADENOSINE DEAMINASEPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYXANTHINURIA, TYPE IXANTHINURIA, TYPE IIADENINE PHOSPHO-RIBOSYLTRANSFERASE DEFICIENCYLESCH-NYHAN SYNDROME; LNSHYPOXANTHINE-GUANINEPHOSPHORIBOSYL-TRANSFERASEDECICIENCYHPRT1LESCH-NYHAN SYNDROMEPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYMITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3XANTHINURIA, TYPE IPRPPGARFGARFGAMAIRCAIRAICARPSACAIRGART(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+FumarateXODEOXYGUANOSINE KINASEDEFICIENCYPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYP(i)Phosphoribosylpyrophosphate synthetase superactivityADENYL- SUCCINATE LYASE DEFICIENCYADENYL- SUCCINATE LYASE DEFICIENCYMitochondrial ribonucleotide reductase subunit 2 deficiency


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).

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Ontology Terms

 

Bibliography

  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 41''; ISBN 978-3-642-40337-8,, 2014 PubMed Europe PMC Scholia
  2. R. Mendel; ''The Molybdenum Cofactor''; J. Biol. Chem., 2013 PubMed Europe PMC Scholia
  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 Europe PMC Scholia
  4. Su, H, Lenardo, M.; ''Chapter 5 Combined Immune Deficiencies''; https://doi.org/10.1016/B978-0-12-405546-9.00005-4, 2014 DOI Scholia

History

View all...
CompareRevisionActionTimeUserComment
134289view05:40, 20 July 2024EgonwRemoved a template comment (and fixed the β character)
128217view03:40, 29 January 2024EweitzStandardize case
128216view03:35, 29 January 2024EweitzSoften disease color
126033view09:50, 29 March 2023DeSlUpdate layout righthand side
126032view09:49, 29 March 2023DeSlUpdated details for xantinuria II (XAN2) and included MOCOS enzyme
124954view08:25, 7 January 2023EgonwFixed the OMIM link patterns
123768view13:38, 12 August 2022DeSlAdded ed. 5 details
123767view13:35, 12 August 2022DeSlAdded lit ref. + inchikey for 6-oxoP (M1), converted AICARP line to graphical line.
120400view09:08, 30 November 2021Fehrhartboxed pathway node
119708view09:01, 5 August 2021DeSlVisualization change
119707view08:56, 5 August 2021DeSlconverted all http to https for OMIM URLs
119706view08:54, 5 August 2021DeSlFixed another OMIM URL
119705view08:53, 5 August 2021DeSlFixed two more OMIM URLs
119702view08:39, 5 August 2021DeSlfixed another OMIM URL (ADA)
119701view08:28, 5 August 2021DeSlUpdated OMIM URL for APRT disorder
119700view07:54, 5 August 2021DeSlAdded ID for auglurant
119283view10:48, 23 June 2021FinterlyAdded ISBN and DOI Biopax Info
111936view09:08, 11 September 2020DeSlModified description
108454view14:06, 20 December 2019DeSlOntology Term : 'disease pathway' added !
108453view14:06, 20 December 2019DeSlModified title
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

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
ADENINE PHOSPHO-

RIBOSYLTRANSFERASE

DEFICIENCY		102600 (OMIM)
ADENOSINE

DEAMINASE

DEFICIENCY		608958 (OMIM)
ADENOSINE DEAMINASE608958 (OMIM)
ADPMetaboliteCHEBI:16761 (ChEBI)
ADPMetaboliteQ185253 (Wikidata) Co-enzyme
ADSLProteinA0A096LNY4 (Uniprot-TrEMBL)
AICARMetaboliteCHEBI:2030 (ChEBI)
AICARPMetaboliteCHEBI:18406 (ChEBI)
AICAr transformylase/ IMP cyclohydrolase deficiency608688 (OMIM)
AIRMetaboliteCHEBI:138560 (ChEBI)
AMP deaminase

deficiency

102770 (OMIM) aka Myoadenylate deaminase
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)
DEOXYGUANOSINE KINASE DEFICIENCY601465 (OMIM)
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)
HYPOXANTHINE-

GUANINE PHOSPHORIBOSYL- TRANSFERASE

DECICIENCY		308000 (OMIM)
IMP DEHYDROGENASE DEFICIENCY146690 (OMIM)
IMPMetaboliteCHEBI:17202 (ChEBI)
IMPDH1GeneProductENSG00000106348 (Ensembl)
INOSINEMetaboliteCHEBI:17596 (ChEBI)
LESCH-NYHAN SYNDROME300322 (OMIM)
LESCH-NYHAN SYNDROME; LNS300322 (OMIM)
MITOCHONDRIAL DNA

DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE);

MTDPS3		251880 (OMIM)
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)
PURINE

NUCLEOSIDE PHOSPHORYLASE

DEFICIENCY		164050 (OMIM)
PURINE

NUCLEOSIDE PHOSPHORYLASE

DEFICIENCY		613179 (OMIM)
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)
XANTHINURIA, TYPE I278300 (OMIM)
XANTHINURIA, TYPE I607633 (OMIM)
XANTHINURIA, TYPE II603592 (OMIM)
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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