Purine metabolism and related disorders (Homo sapiens)
From WikiPathways
Description
Overview of purine metabolism and related diseases. Disorders resulting from an enzyme defect are highlighted in pink, metabolic markers are highlighted in red. Arrows indicate the directionality of chemical conversions.
On the right, the biosynthesis of IMP is depicted in more detail (adapted from: https://en.wikipedia.org/wiki/Purine_metabolism). The color scheme for this part of the pathway is as follows: enzymes(black), coenzymes(light orange), regular substrates/metabolites(blue), additional substrates(dark green), metal ions(turquoise), inorganic molecules(light purple).
This pathway was inspired by Chapter 41 of the book of Blau (ISBN 3642403360 (978-3642403361)). A similar version without the disorders and with biomarkers visualised with arrows can be found here.
Proteins on this pathway have targeted assays available via the CPTAC Assay PortalQuality Tags
Ontology Terms
Bibliography
- 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
- R. Mendel; ''The Molybdenum Cofactor''; J. Biol. Chem., 2013 PubMed Europe PMC Scholia
- 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
- 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
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External references
DataNodes
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Name | Type | Database reference | Comment |
---|---|---|---|
2'-Deoxyadenosine | Metabolite | CHEBI:17256 (ChEBI) | |
2'-deoxyinosine | Metabolite | CHEBI:28997 (ChEBI) | |
2,8-Dihydroxyadenine | Metabolite | Q4596812 (Wikidata) | |
2-Deoxyguanosine | Metabolite | CHEBI:17172 (ChEBI) | |
5-PRA | Metabolite | CHEBI:58681 (ChEBI) |
|
6-methylthiopurine | Metabolite | CHEBI:28279 (ChEBI) | |
6-oxopyrimidine (M1) | Metabolite | ORGWVAZZJZJVPV-UHFFFAOYSA-N (InChIKey) | Oxidize version of auglurant, N-(5-fluoropyridin-2-yl)-6-methyl-4-((6-oxo)1,6-dihydropyrimidin-5-yloxy)picolinamide, aka VU0652922; structure drawn based on Fig. 1 [PMID:28939686] |
ADA | Protein | P00813 (Uniprot-TrEMBL) | |
ADP | Metabolite | CHEBI:456216 (ChEBI) | |
ADP | Metabolite | Q185253 (Wikidata) | Co-enzyme |
ADSL | Protein | P30566 (Uniprot-TrEMBL) | |
ADSS | Protein | P30520 (Uniprot-TrEMBL) | Adenylosuccinate synthetase isozyme 2 |
AICA-riboside | Metabolite | CHEBI:28498 (ChEBI) | |
AICARP | Metabolite | CHEBI:58475 (ChEBI) | |
AIR | Metabolite | CHEBI:137981 (ChEBI) | |
AMP | Metabolite | CHEBI:456215 (ChEBI) | |
AMPD1 | Protein | P23109 (Uniprot-TrEMBL) | |
AO | Protein | Q06278 (Uniprot-TrEMBL) | 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. |
APRT | Protein | P07741 (Uniprot-TrEMBL) | |
ATIC | Protein | P31939 (Uniprot-TrEMBL) | |
ATP | Metabolite | CHEBI:30616 (ChEBI) | |
ATP | Metabolite | Q80863 (Wikidata) | Co-enzyme |
Adenine | Metabolite | CHEBI:16708 (ChEBI) | |
Adenosine | Metabolite | CHEBI:16335 (ChEBI) | |
Asp | Metabolite | Q178450 (Wikidata) | Substrate |
CAIR | Metabolite | CHEBI:77657 (ChEBI) | |
DGUOK | Protein | Q16854 (Uniprot-TrEMBL) | |
FAICARP | Metabolite | CHEBI:58467 (ChEBI) | |
FGAM | Metabolite | CHEBI:58478 (ChEBI) | |
FGAR | Metabolite | CHEBI:58426 (ChEBI) | |
Fumarate | Metabolite | Q139857 (Wikidata) | Substrate |
GAR | Metabolite | CHEBI:58457 (ChEBI) | ChEBI identifier will be replaced and updated by RHEA end of July |
GART(E1) | Protein | P22102 (Uniprot-TrEMBL) | |
GART(E2) | Protein | P22102 (Uniprot-TrEMBL) | |
GART(E3) | Protein | P22102 (Uniprot-TrEMBL) | |
GDP | Metabolite | CHEBI:58189 (ChEBI) | |
GMP | Metabolite | CHEBI:58115 (ChEBI) | |
GRM5 | Protein | P41594 (Uniprot-TrEMBL) | Metabotropic glutamate receptor 5 |
GTP | Metabolite | CHEBI:37565 (ChEBI) | |
Gln | Metabolite | Q181619 (Wikidata) | Substrate |
Glu | Metabolite | CHEBI:16015 (ChEBI) | Substrate |
Guanine | Metabolite | CHEBI:16235 (ChEBI) | |
Guanosine | Metabolite | CHEBI:16750 (ChEBI) | |
H2O | Metabolite | CHEBI:15377 (ChEBI) | Inorganic molecules |
HCO3 - | Metabolite | Q409202 (Wikidata) | Inorganic molecules |
HPRT1 | Protein | P00492 (Uniprot-TrEMBL) | |
Hypoxanthine | Metabolite | CHEBI:17368 (ChEBI) | |
IMP | Metabolite | CHEBI:58053 (ChEBI) | |
IMPDH1 | Protein | P20839 (Uniprot-TrEMBL) | |
ITPA | Protein | Q9BY32 (Uniprot-TrEMBL) | |
ITP | Metabolite | CHEBI:61402 (ChEBI) | is a nucleoside triphosphate(4−) |
Inosine | Metabolite | CHEBI:17596 (ChEBI) | |
MAT2A | Protein | P31153 (Uniprot-TrEMBL) | |
Mercaptopurine | Metabolite | CHEBI:50667 (ChEBI) | |
Methionine metabolism and disorders | Pathway | WP4292 (WikiPathways) | |
Methionine | Metabolite | CHEBI:57844 (ChEBI) | |
Mg2+ | Metabolite | Q26987404 (Wikidata) | Metal Ion |
N(10)-formyl-THF | Metabolite | Q27098160 (Wikidata) | Co-enzyme |
P(i) | Metabolite | Q177811 (Wikidata) | Inorganic molecules |
PAICS(E1) | Protein | P22234 (Uniprot-TrEMBL) | |
PAICS(E2) | Protein | P22234 (Uniprot-TrEMBL) | |
PFAS | Protein | O15067 (Uniprot-TrEMBL) | |
PNP | Protein | P00491 (Uniprot-TrEMBL) | |
PPAT | Protein | Q06203 (Uniprot-TrEMBL) | |
PRPP | Metabolite | CHEBI:17111 (ChEBI) | |
PRPP | Metabolite | CHEBI:58017 (ChEBI) | |
PRPPs | Protein | 2.7.6.1 (Enzyme Nomenclature) | |
PRPS1 | Protein | P60891 (Uniprot-TrEMBL) | |
RR | Protein | 1.17.4.1 (Enzyme Nomenclature) | |
RRM2B | Protein | Q7LG56 (Uniprot-TrEMBL) | |
Ribose-5-P | Metabolite | CHEBI:52742 (ChEBI) | |
S-AMP | Metabolite | CHEBI:57567 (ChEBI) | succinyladenosine monophosphate |
SACAIR | Metabolite | CHEBI:58443 (ChEBI) | |
SAICA-riboside | Metabolite | CHEBI:18319 (ChEBI) | |
SAICARP | Metabolite | CHEBI:58443 (ChEBI) | |
SAM | Metabolite | CHEBI:59789 (ChEBI) | aka S-adenosyl-L-methionine |
Succinyladenosine | Metabolite | CHEBI:71169 (ChEBI) | |
THF | Metabolite | Q168453 (Wikidata) | Co-enzyme |
TPMT | Protein | P51580 (Uniprot-TrEMBL) | |
Urate | Metabolite | CHEBI:17775 (ChEBI) | |
XMP | Metabolite | CHEBI:57464 (ChEBI) | |
XO | Protein | P47989 (Uniprot-TrEMBL) | |
Xanthine | Metabolite | CHEBI:17712 (ChEBI) | |
Xanthosine | Metabolite | CHEBI:18107 (ChEBI) | |
auglurant | Metabolite | RBAHIIPVJVMACF-UHFFFAOYSA-N (InChIKey) | VU0424238 (VU238, auglurant) aka N-(5-fluoropyridin-2-yl)-6-methyl-4-(pyrimidin-5-yloxy)picolinamide |
dADP | Metabolite | CHEBI:57667 (ChEBI) | |
dAMP | Metabolite | CHEBI:58245 (ChEBI) | |
dATP | Metabolite | CHEBI:61404 (ChEBI) | |
dGDP | Metabolite | CHEBI:58595 (ChEBI) | |
dGMP | Metabolite | CHEBI:57673 (ChEBI) | |
dGTP | Metabolite | CHEBI:16497 (ChEBI) |
Annotated Interactions
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Source | Target | Type | Database reference | Comment |
---|---|---|---|---|
2'-Deoxyadenosine | Adenine | mim-conversion | 27743 (Rhea) | |
2'-deoxyinosine | Hypoxanthine | mim-conversion | 27751 (Rhea) | |
2'-deoxyinosine | mim-conversion | 28191 (Rhea) | ||
2-Deoxyguanosine | Guanine | mim-conversion | 27739 (Rhea) | |
2-Deoxyguanosine | dGMP | mim-conversion | 19202 (Rhea) | |
5-PRA | GAR | mim-conversion | 17454 (Rhea) | This reaction will be updated by Rhea end of July |
ADP | ATP | mim-conversion | 30657 (Rhea) | |
ADP | dADP | mim-conversion | 28036 (Rhea) | |
AICARP | FAICARP | mim-conversion | 22193 (Rhea) | |
AIR | CAIR | mim-conversion | 10794 (Rhea) | |
AMP | ADP | mim-conversion | 11462 (Rhea) | |
AMP | Adenosine | mim-conversion | 29376 (Rhea) | |
AMP | IMP | mim-conversion | 14778 (Rhea) | |
ATP | SAM | mim-conversion | 21081 (Rhea) | |
Adenine | AMP | mim-conversion | 16611 (Rhea) | |
Adenosine | Adenine | mim-conversion | 18670 (Rhea) | |
Adenosine | Inosine | mim-conversion | 24409 (Rhea) | |
CAIR | AIR | mim-conversion | 10793 (Rhea) | |
CAIR | SACAIR | mim-conversion | 22629 (Rhea) | |
FAICARP | IMP | mim-conversion | 18447 (Rhea) | |
FGAM | AIR | mim-conversion | 23032 (Rhea) | |
FGAR | FGAM | mim-conversion | 17130 (Rhea) | |
GAR | FGAR | mim-conversion | 15054 (Rhea) | |
GDP | GTP | mim-conversion | 29865 (Rhea) | |
GDP | dGDP | mim-conversion | 28032 (Rhea) | |
GMP | GDP | mim-conversion | 20781 (Rhea) | |
GMP | Guanosine | mim-conversion | 27715 (Rhea) | |
Guanine | GMP | mim-conversion | 25426 (Rhea) | |
Guanine | mim-conversion | 14666 (Rhea) | ||
Guanosine | Guanine | mim-conversion | 13234 (Rhea) | |
Hypoxanthine | Xanthine | mim-conversion | 24671 (Rhea) | |
Hypoxanthine | mim-conversion | 17975 (Rhea) | ||
IMP | Inosine | mim-conversion | 27719 (Rhea) | |
IMP | S-AMP | mim-conversion | 15754 (Rhea) | |
IMP | XMP | mim-conversion | 11709 (Rhea) | |
ITP | IMP | mim-conversion | 29400 (Rhea) | |
Inosine | Hypoxanthine | mim-conversion | 16658 (Rhea) | |
Mercaptopurine | 6-methylthiopurine | mim-conversion | 12610 (Rhea) | |
Methionine | mim-conversion | 21081 (Rhea) | ||
PRPP | 5-PRA | mim-conversion | 14907 (Rhea) | |
S-AMP | AMP | mim-conversion | 16854 (Rhea) | |
SACAIR | AICARP | mim-conversion | 23921 (Rhea) | |
SACAIR | CAIR | mim-conversion | 22630 (Rhea) | |
SAICARP | AICARP | mim-conversion | 23921 (Rhea) | |
SAM | mim-conversion | 12610 (Rhea) | ||
XMP | GMP | mim-conversion | 18302 (Rhea) | |
XMP | Xanthosine | mim-conversion | 28531 (Rhea) | |
Xanthine | Urate | mim-conversion | 16670 (Rhea) | |
Xanthosine | Xanthine | mim-conversion | 27639 (Rhea) | |
dADP | dAMP | mim-conversion | 23102 (Rhea) | |
dADP | dATP | mim-conversion | 27675 (Rhea) | |
dAMP | 2'-Deoxyadenosine | mim-conversion | 29372 (Rhea) | |
dGDP | dGMP | mim-conversion | 12699 (Rhea) | |
dGDP | dGTP | mim-conversion | 27691 (Rhea) | |
dGMP | 2-Deoxyguanosine | mim-conversion | 19203 (Rhea) |