Purine metabolism (Homo sapiens)

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231Subunit of8 steps involved(see right for details)Example reaction with AO and XO involved(related to exogeneous metabolism)ADPATPS-AmphetamineRibose-5-PGlnGTPPhosphoribosylpyrophosphate synthetase 1 defectsMg2+AMPADSLPPAT5-PRAdGMPXMP2-DeoxyguanosineAICARPAMPD1hypoxanthineGMPPRPPsPRPS1RRM2BdAMPPNPAOXanthosineAPRTdGTPGRM5DGUOKADASuccinyladenosineAdenosine2,8-DihydroxyadenineUrateH2OSAICARPIMPDH1dADP6-oxopyrimidine metabolite M1ATICadenineGUANINEdGDPAICAR2'-DeoxyadenosinedATPADSLXanthinePRPPauglurantHPRT1GDPSAICAribosideFAICARPINOSINEATPguanosineRR32'-deoxyinosineIMPPNPPNPXOPNPRRATICAdenosine deaminasePNPPhosphoribosylpyrophosphate synthetase superactivityADENYL-SUCCINATE LYASEDEFICIENCYAICAr 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); MTDPS3Mitochondrial ribonucleotide reductase subunit 2 deficiencyXANTHINURIA, 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 KINASEDEFICIENCYADENYL-SUCCINATE LYASEDEFICIENCYPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYPURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCYP(i)


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

History

View all...
CompareRevisionActionTimeUserComment
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
96634view14:06, 24 March 2018DeSlAdded more OMIM IDs
96633view13:06, 24 March 2018DeSlChanged layout + location of dGUOK related disease
96618view15:25, 23 March 2018DeSlChanged layout more for readability
96617view15:18, 23 March 2018DeSlModified description
96616view15:14, 23 March 2018DeSlModified description
96615view15:13, 23 March 2018DeSlAdded link to Xanthinuria Type II disease through specific metabolic conversion with AO and XO -proteins involved.
96614view14:57, 23 March 2018DeSlAdded 8 steps between PRPP and SAICARP
96613view14:03, 23 March 2018DeSlChanging layout, adding marker information.
96554view21:26, 17 March 2018DeSlOntology Term : 'purine nucleoside phosphorylase deficiency pathway' added !
96553view21:25, 17 March 2018DeSlOntology Term : 'adenylosuccinase lyase deficiency' added !
96552view21:23, 17 March 2018DeSlOntology Term : 'Lesch-Nyhan syndrome pathway' added !
96551view21:23, 17 March 2018DeSlOntology Term : 'Lesch-Nyhan syndrome' added !
96550view21:23, 17 March 2018DeSlOntology Term : 'xanthinuria disease pathway, type II' added !
96549view21:22, 17 March 2018DeSlOntology Term : 'mitochondrial DNA depletion syndrome 3' added !
96548view21:20, 17 March 2018DeSlOntology Term : 'adenosine monophosphate deaminase deficiency pathway' added !
96547view21:19, 17 March 2018DeSlOntology Term : 'adenine phosphoribosyltransferase deficiency' added !
96538view21:13, 17 March 2018DeSlOntology Term : 'purine metabolic pathway' added !
96537view21:12, 17 March 2018DeSlOntology Term : 'inborn error purine-pyrimidine metabolism disease pathway' added !
96533view21:04, 17 March 2018DeSlAdded lit. reference
96532view21:00, 17 March 2018DeSlChanged KEGG genes datasource to Enzyme Nomenclature, removed EC for ID number.
96529view20:55, 17 March 2018DeSlAdded OMIM IDs for diseases
96272view16:22, 3 March 2018EgonwPNP is a metabolite.
96265view22:14, 2 March 2018RoelOntology Term : 'adenosine deaminase deficiency' added !
96264view22:13, 2 March 2018RoelNew pathway

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)
ADENYL-

SUCCINATE LYASE

DEFICIENCY
103050 (OMIM)
ADENYL-

SUCCINATE LYASE

DEFICIENCY
608222 (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
Mitochondrial ribonucleotide reductase subunit 2 deficiency604712 (OMIM)
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)
Phosphoribosylpyrophosphate synthetase 1 defects311850 (OMIM)
  • DISEASE
  • AKA X-linked Charcot-Marie-Tooth disease-5
Phosphoribosylpyrophosphate synthetase superactivity300661 (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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