Purine metabolism (Homo sapiens)

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123Subunit ofExample reaction with AO and XO involved8 steps involved(see right for details)GTPPRPS1AMPguanosineMg2+AdenosineINOSINEPRPPsRibose-5-PXanthosinedATPGlnGDPPRPPADSLRRdADPdGDPSAICARP2,8-DihydroxyadenineSuccinyladenosineGMPADP6-oxopyrimidine metabolite M1IMPDH12'-DeoxyadenosineAICARPauglurantGUANINE5-PRAdAMPXMPadenineATPAICARAPRTSAICAribosideS-AmphetamineRRM2BUratePhosphoribosylpyrophosphate synthetase 1 defects2-DeoxyguanosineADSLPNPDGUOKdGMPAMPD1ADAdGTPATICXanthineHPRT1PPATATPFAICARPGRM5hypoxanthineAOH2O22'-deoxyinosineIMPPNPPNPXOPNPRRATICAdenosine deaminasePNPPhosphoribosylpyrophosphate synthetase superactivityADENYL-SUCCINATE LYASEDEFICIENCYAICAr transformylase/IMP cyclohydrolase deficiencyAMP deaminase deficiencyIMP DEHYDROGENASE DEFICIENCYADENOSINE DEAMINASEDEFICIENCYADENOSINE DEAMINASEPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYPURINE 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); MTDPS3Mitochondrial ribonucleotide reductase subunit 2 deficiencyXANTHINURIA, TYPE IPRPPGARFGARFGAMAIRCAIRAICARPSACAIRGART(E1)GART(E2)PFASPAICS(E1)GART(E3)PAICS(E2)ADSLADPATPADPATPADPATPADPATPADPGlu2 P(i)Mg2+P(i)GlnN(10)-formyl-THFTHFGlnH2OGluP(i)Mg2+P(i)Mg2+HCO3 -P(i)Mg2+P(i)AspMg2+FumarateXODEOXYGUANOSINE KINASEDEFICIENCYADENYL-SUCCINATE LYASEDEFICIENCYPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYPURINE NUCLEOSIDE PHOSPHORYLASE 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).

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 P(i)MetaboliteInorganic molecules
2'-DeoxyadenosineMetaboliteCHEBI:17256 (ChEBI)
2'-deoxyinosineMetaboliteCHEBI:28997 (ChEBI)
2,8-DihydroxyadenineMetaboliteQ4596812 (Wikidata)
2-DeoxyguanosineMetaboliteCHEBI:17172 (ChEBI)
5-PRAMetabolite
6-oxopyrimidine metabolite M1Metabolite
ADAProteinF5GYD4 (Uniprot-TrEMBL) aka Adenosine deaminase
ADENINE PHOSPHO-

RIBOSYLTRANSFERASE

DEFICIENCY
102600 (OMIM)
ADENOSINE

DEAMINASE

DEFICIENCY
608958 (OMIM)
ADENOSINE DEAMINASE608958 (OMIM)
ADENYL-

SUCCINATE LYASE

DEFICIENCY
103050 (OMIM)
ADENYL-

SUCCINATE LYASE

DEFICIENCY
608222 (OMIM)
ADPMetaboliteCo-enzyme
ADPMetaboliteCHEBI:2342 (ChEBI)
ADSLProteinA0A096LNY4 (Uniprot-TrEMBL)
AICARMetaboliteCHEBI:2030 (ChEBI)
AICARPMetaboliteCHEBI:2030 (ChEBI)
AICAr transformylase/ IMP cyclohydrolase deficiency608688 (OMIM)
AIRMetabolite
AMP deaminase

deficiency

102770 (OMIM) aka Myoadenylate deaminase
AMPMetaboliteCHEBI:2356 (ChEBI)
AMPD1GeneProductENSG00000116748 (Ensembl)
AOProtein
APRTGeneProductAPRT (HGNC)
ATICGeneProductENSG00000138363 (Ensembl)
ATPMetaboliteCo-enzyme
ATPMetaboliteCHEBI:30616 (ChEBI)
Adenosine deaminaseProteinF5GYD4 (Uniprot-TrEMBL)
AdenosineMetaboliteCHEBI:2472 (ChEBI)
AspMetaboliteSubstrate
CAIRMetabolite
DEOXYGUANOSINE KINASE DEFICIENCY601465 (OMIM)
DGUOKGeneProductENSG00000114956 (Ensembl)
FAICARPMetaboliteCHEBI:18967 (ChEBI)
FGAMMetabolite
FGARMetabolite
FumarateMetaboliteSubstrate
GARMetabolite
GART(E1)Protein
GART(E2)Protein
GART(E3)Protein
GDPMetaboliteCHEBI:5212 (ChEBI)
GMPMetaboliteCHEBI:5228 (ChEBI)
GRM5ProteinP41594 (Uniprot-TrEMBL) Metabotropic glutamate receptor 5
GTPMetaboliteCHEBI:37565 (ChEBI)
GUANINEMetaboliteCHEBI:42948 (ChEBI)
GlnMetaboliteSubstrate
GluMetaboliteSubstrate
GluMetaboliteCHEBI:16015 (ChEBI) Substrate
H2OMetaboliteInorganic molecules
HCO3 -MetaboliteInorganic molecules
HPRT1GeneProductENSG00000165704 (Ensembl)
HYPOXANTHINE-

GUANINE PHOSPHORIBOSYL- TRANSFERASE

DECICIENCY
308000 (OMIM)
IMP DEHYDROGENASE DEFICIENCY146690 (OMIM)
IMPMetaboliteCHEBI:17202 (ChEBI)
IMPDH1GeneProductENSG00000106348 (Ensembl)
INOSINEMetaboliteCHEBI:44407 (ChEBI)
LESCH-NYHAN SYNDROME300322 (OMIM)
LESCH-NYHAN SYNDROME; LNS300322 (OMIM)
MITOCHONDRIAL DNA

DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE);

MTDPS3
251880 (OMIM)
Mg2+MetaboliteMetal Ion
Mitochondrial ribonucleotide reductase subunit 2 deficiency604712 (OMIM)
N(10)-formyl-THFMetaboliteCo-enzyme
P(i)MetaboliteInorganic molecules
PAICS(E1)Protein
PAICS(E2)Protein
PFASProtein
PNPGeneProductCHEBI:1913 (ChEBI)
PPATProtein
PRPPMetaboliteCHEBI:2121 (ChEBI)
PRPPsGeneProduct2.7.6.1 (Enzyme Nomenclature)
PRPS1ProteinP60891 (Uniprot-TrEMBL)
PURINE

NUCLEOSIDE PHOSPHORYLASE

DEFICIENCY
164050 (OMIM)
PURINE

NUCLEOSIDE PHOSPHORYLASE

DEFICIENCY
613179 (OMIM)
PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY613179 (OMIM)
Phosphoribosylpyrophosphate synthetase 1 defects311850 (OMIM)
  • DISEASE
  • AKA X-linked Charcot-Marie-Tooth disease-5
Phosphoribosylpyrophosphate synthetase superactivity300661 (OMIM)
RRGeneProduct
RRProtein1.17.4.1 (Enzyme Nomenclature) ribonucleotide reductase
RRM2BProteinQ7LG56 (Uniprot-TrEMBL)
Ribose-5-PMetaboliteCHEBI:52742 (ChEBI)
S-AmphetamineMetaboliteCHEBI:4469 (ChEBI)
SACAIRMetabolite
SAICARPMetabolite
SAICAribosideMetaboliteCHEBI:18319 (ChEBI)
SuccinyladenosineMetaboliteHMDB00912 (HMDB)
THFMetaboliteCo-enzyme
UrateMetaboliteCHEBI:9885 (ChEBI)
XANTHINURIA, TYPE I278300 (OMIM)
XANTHINURIA, TYPE I607633 (OMIM)
XANTHINURIA, TYPE II603592 (OMIM)
XMPMetaboliteCHEBI:10067 (ChEBI)
XOGeneProduct1.17.3.2 (Enzyme Nomenclature)
XOGeneProductQ412509 (Wikidata) aka Xanthine oxidase
XanthineMetaboliteCHEBI:10059 (ChEBI)
XanthosineMetaboliteCHEBI:10066 (ChEBI)
adenineMetaboliteCHEBI:16708 (ChEBI)
auglurantMetaboliteVU0424238 (VU238, auglurant)
dADPMetaboliteCHEBI:10489 (ChEBI)
dAMPMetaboliteCHEBI:10490 (ChEBI)
dATPMetaboliteCHEBI:10491 (ChEBI)
dGDPMetaboliteCHEBI:10495 (ChEBI)
dGMPMetaboliteCHEBI:10496 (ChEBI)
dGTPMetaboliteCHEBI:10497 (ChEBI)
guanosineMetaboliteCHEBI:16750 (ChEBI)
hypoxanthineMetaboliteQ410305 (Wikidata)

Annotated Interactions

No annotated interactions

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