Purine metabolism and related disorders (Homo sapiens)

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18 steps involved(see right for details)Ribose-5-PS-AmphetaminePRPS12-DeoxyguanosineXanthineAMP2,8-DihydroxyadeninePNPGTPH2OADSLPPATPhosphoribosylpyrophosphate synthetase 1 defectsATPdGDPdADPPRPPsFAICARPadenineAdenosine deaminaseGlndGMPGUANINEguanosineIMPDH1INOSINE2-DeoxyadenosinePNPADSLGMPHPRT1PRPPAPRThypoxanthineAICARPSuccinyladenosinedGTPADPGDPdATPMg2+Xanthine oxidaseATICRRAICARSAICARPXMPSAICAriboside5-PRAUrateATPXanthosineAMPD1AdenosineDGUOKdAMP2ʼ-deoxyinosinePNPIMPPNPPNPXOPNPXORRATICAdenosine 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); MTDPS3RIBONUCLEOTIDE REDUCTASE, M2 B; RRM2BXANTHINURIA, 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+Fumarate


Description

Overview of purine metabolism and related disseases

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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 P(i)MetaboliteInorganic molecules
2,8-DihydroxyadenineMetaboliteQ4596812 (Wikidata)
2-DeoxyadenosineMetaboliteCHEBI:17256 (ChEBI)
2-DeoxyguanosineMetaboliteCHEBI:17172 (ChEBI)
2ʼ-deoxyinosineMetaboliteCHEBI:28997 (ChEBI)
5-PRAMetabolite
ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT102600 (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)
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
DGUOKGeneProductENSG00000114956 (Ensembl)
FAICARPMetaboliteCHEBI:18967 (ChEBI)
FGAMMetabolite
FGARMetabolite
FumarateMetaboliteSubstrate
GARMetabolite
GART(E1)Protein
GART(E2)Protein
GART(E3)Protein
GDPMetaboliteCHEBI:5212 (ChEBI)
GMPMetaboliteCHEBI:5228 (ChEBI)
GTPMetaboliteCHEBI:37565 (ChEBI)
GUANINEMetaboliteCHEBI:42948 (ChEBI)
GlnMetaboliteSubstrate
GluMetaboliteSubstrate
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); MTDPS3251880 (OMIM)
Mg2+MetaboliteMetal Ion
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		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)
RIBONUCLEOTIDE REDUCTASE, M2 B; RRM2B604712 (OMIM)
RRGeneProduct
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)
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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