Purine metabolism and related disorders (Homo sapiens)

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21Subunit of8 steps involved(see right for details)Example reaction with AO and XO involvedUrateguanosineINOSINEADSL5-PRAdAMPRibose-5-PRRXMPdGDPRRM2BAICARPhypoxanthineADAPRPPAOPNPAPRTHPRT1ADSL6-oxopyrimidine metabolite M1AdenosineGRM5GTPXanthosineADPGDPdADPS-AmphetamineDGUOK2'-DeoxyadenosinePRPS1Mg2+PRPPs2,8-DihydroxyadenineAMPdGMPATPSuccinyladenosineIMPDH1SAICAribosideGUANINEdGTPAMPD1H2OATPPPATATICFAICARPGMPXanthine oxidaseadeninePhosphoribosylpyrophosphate synthetase 1 defectsGlnPNPSAICARP2-DeoxyguanosinedATPauglurantAICARXanthine2'-deoxyinosine1IMPPNPPNPXOPNPXORRATICAdenosine deaminasePNPPhosphoribosylpyrophosphate synthetase superactivityAdenylosuccinase deficiencyAICAr transformylase/IMP cyclohydrolase deficiencyAmp deaminase Myoadenylate deaminaseIMP DEHYDROGENASE 1ADENOSINE DEAMINASEPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYADENOSINE DEAMINASEPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYXANTHINURIA, TYPE II; XAN2XANTHINURIA, TYPE II; XAN2XANTHINURIA, TYPE IXANTHINURIA, TYPE II; XAN2XANTHINURIA, TYPE II; XAN2XANTHINURIA, TYPE IIADENINE PHOSPHORIBOSYLTRANSFERASE; APRTLESCH-NYHAN SYNDROME; LNSLESCH-NYHAN SYNDROME; LNSHPRT1LESCH-NYHAN SYNDROME; LNSPURINE 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 KINASEDEFICIENCY


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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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 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 PHOSPHORIBOSYLTRANSFERASE; APRT102600 (OMIM)
ADENOSINE DEAMINASE608958 (OMIM)
ADENOSINE DEAMINASE608958 (OMIM)
ADPMetaboliteCo-enzyme
ADPMetaboliteCHEBI:2342 (ChEBI)
ADSLProteinA0A096LNY4 (Uniprot-TrEMBL)
AICARMetaboliteCHEBI:2030 (ChEBI)
AICARPMetaboliteCHEBI:2030 (ChEBI)
AICAr transformylase/ IMP cyclohydrolase deficiency608688 (OMIM)
AIRMetabolite
AMPMetaboliteCHEBI:2356 (ChEBI)
AMPD1GeneProductENSG00000116748 (Ensembl)
AOProtein
APRTGeneProductAPRT (HGNC)
ATICGeneProductENSG00000138363 (Ensembl)
ATPMetaboliteCo-enzyme
ATPMetaboliteCHEBI:30616 (ChEBI)
Adenosine deaminaseProteinF5GYD4 (Uniprot-TrEMBL)
AdenosineMetaboliteCHEBI:2472 (ChEBI)
Adenylosuccinase deficiency608222 (OMIM)
Amp deaminase Myoadenylate deaminase102770 (OMIM)
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)
IMP DEHYDROGENASE 1146690 (OMIM)
IMPMetaboliteCHEBI:17202 (ChEBI)
IMPDH1GeneProductENSG00000106348 (Ensembl)
INOSINEMetaboliteCHEBI:44407 (ChEBI)
LESCH-NYHAN SYNDROME; LNS300322 (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)
XANTHINURIA, TYPE II; XAN2603592 (OMIM)
XANTHINURIA, TYPE II; XAN2278300 (OMIM)
XANTHINURIA, TYPE II; XAN2603592 (OMIM)
XMPMetaboliteCHEBI:10067 (ChEBI)
XOGeneProduct1.17.3.2 (Enzyme Nomenclature)
XOGeneProductQ412509 (Wikidata) aka Xanthine oxidase
Xanthine oxidaseGeneProductQ412509 (Wikidata)
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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