Pyrimidine metabolism and related diseases (WP4225)
Homo sapiens
Overview of pyrimidine metabolism and related diseases
Authors
Roel Hacking , Denise Slenter , Egon Willighagen , Martina Summer-Kutmon , Irene Hemel , Friederike Ehrhart , and Finterly HuCited In
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Organism
Homo sapiensCommunities
Inborn Errors of Metabolism (IEM) Pathways Rare DiseasesAnnotations
Pathway Ontology: inborn error of purine-pyrimidine metabolism pathway pyrimidine metabolic pathway dihydropyrimidine dehydrogenase deficiency pathway beta-ureidopropionase deficiency pathway disease pathway orotic aciduria 1 pathway
Disease Ontology: dihydropyrimidine dehydrogenase deficiency pyrimidine metabolic disorder orotic aciduria
Participants
Label | Type | Compact Identifier | Comment |
---|---|---|---|
(S)-Beta-aminoisobutyrate | Metabolite | chebi:57731 | aka (R)-3-amino-2-methylpropanoate; myokine, β-aminoisobutyric acid (BAIBA); D form of β-aminoisobutyric acid (D-BAIBA)Zwitterion needed for conversion to take place |
Glutamine | Metabolite | chebi:58359 | Zwitterion needed for conversion to take place |
Orotate | Metabolite | chebi:30839 | |
UTP | Metabolite | chebi:46398 | (4-) charge needed for conversion to take place |
Carbamoyl-phosphate | Metabolite | chebi:58228 | (2-) charge needed for conversion to take place |
L-Valine | Metabolite | chebi:57762 | |
CoQ10 | Metabolite | chebi:46245 | |
Thymidine | Metabolite | chebi:17748 | |
OMP | Metabolite | chebi:57538 | Orotidylic acid (3-) charge needed for conversion to take place |
Acetyl-CoA | Metabolite | chebi:15351 | |
Aspartate | Metabolite | chebi:29991 | (1-) charge needed for conversion to take place |
Carbamoylaspartate | Metabolite | chebi:32814 | aka N-carbamoyl-L-aspartate(2-) charge needed for conversion to take place |
CDP | Metabolite | chebi:58069 | (3-) charge needed for conversion to take place |
N-Carbamoyl-beta-alanine | Metabolite | chebi:11892 | aka 3-(carbamoylamino)propanoate |
Uridine | Metabolite | chebi:16704 | |
CoQ10 - H2 (reduced) | Metabolite | chebi:64183 | |
Ornithine | Metabolite | chebi:46911 | (1) charge needed for conversion to take place |
Dihydrouracil | Metabolite | chebi:15901 | |
Cytidine | Metabolite | chebi:17562 | |
Dihydrothymine | Metabolite | chebi:27468 | |
UMP | Metabolite | chebi:57865 | (2-) charge needed for conversion to take place |
Citrulline | Metabolite | chebi:57743 | Zwitterion needed for conversion to take place |
dUDP | Metabolite | chebi:60471 | (3-) charge needed for conversion to take place |
malonate semialdehyde | Metabolite | chebi:57700 | AKA Beta-ketopropionateAnnotated without knowledge of R/S configuration |
dUMP | Metabolite | chebi:246422 | (2-) charge needed for conversion to take place |
D-methylmalonatesemialdehyde | Metabolite | chebi:141212 | methylmalonate semialdehyde aka 2-Methyl-3-oxopropanoic acid aka 2-methyl-3-oxopropanoateD configuration == R-annotation in ChEBI |
Uracil | Metabolite | chebi:17568 | |
CMP | Metabolite | chebi:60377 | (2-) charge needed for conversion to take place |
Orotidine | Metabolite | chebi:25722 | |
N-Carbamyl-beta-aminoisobutyric acid | Metabolite | chebi:74414 | aka 3-(carbamoylamino)-2-methylpropanoate(1-) charge needed for conversion to take place |
CTP | Metabolite | chebi:37563 | (4-) charge needed for conversion to take place |
Beta-alanine | Metabolite | chebi:57966 | Zwitterion needed for conversion to take place |
PRPP | Metabolite | chebi:17111 | |
UDP | Metabolite | chebi:58223 | (3-) charge needed for conversion to take place |
Uridine | Metabolite | chebi:16704 | |
Thymine | Metabolite | chebi:17821 | |
HCO3- | Metabolite | chebi:17544 | |
2-Deoxyuridine | Metabolite | chebi:16450 | |
dTMP | Metabolite | chebi:63528 | (2-) charge needed for conversion to take place |
Orotate | Metabolite | chebi:30839 | |
Dihydroorotate | Metabolite | chebi:30864 | |
Carbamoyl-phosphate | Metabolite | chebi:58228 | (2-) charge needed for conversion to take place |
Glutamine | Metabolite | chebi:58359 | Zwitterion needed for conversion to take place |
HCO3- | Metabolite | chebi:17544 | |
+ PRPP | Metabolite | chebi:17111 | |
Glutamate | Metabolite | chebi:29985 | (1-) charge needed for conversion to take place |
NH4+ | Metabolite | chebi:28938 | |
Dihydroorotate | Metabolite | chebi:30864 | |
L-BAIBA | Metabolite | chebi:58655 | L form of β-aminoisobutyric acid (BAIBA) |
L-methylmalonatesemialdehyde | Metabolite | chebi:62413 | methylmalonate semialdehyde aka 2-Methyl-3-oxopropanoic acid aka 2-methyl-3-oxopropanoateL configuration == S-annotation in ChEBI |
Propionyl-CoA | Metabolite | chebi:57392 | |
UMPS-complex | GeneProduct | uniprot:P11172 | |
CAD-complex | GeneProduct | uniprot:P27708 | |
RRM1 | Protein | uniprot:P23921 | |
RRM2 | Protein | uniprot:P31350 | |
MMSDH | Protein | uniprot:Q02252 | |
RRM2B | Protein | uniprot:Q7LG56 | |
TK2 | Protein | uniprot:O00142 | |
OTC | Protein | uniprot:P00480 | |
DPD | Protein | uniprot:Q12882 | AKA DPYD |
DHO | Protein | eccode:3.5.2.3 | |
GLS2 | Protein | uniprot:Q9UI32 | |
RRM2B | Protein | uniprot:Q7LG56 | |
UMPH1 | Protein | uniprot:Q9H0P0 | aka P5N1Enzymes and reactions added with info from https://www.omim.org/entry/606224 |
UP | Protein | uniprot:Q9UBR1 | aka UPB1 |
CPS1 | Protein | uniprot:P31327 | |
TS | Protein | uniprot:P04818 | |
OPRT | Protein | eccode:2.4.2.10 | |
OMPDC | Protein | eccode:4.1.1.23 | |
AGXT2 | Protein | uniprot:Q9BYV1 | |
TP | Protein | uniprot:P19971 | |
DHODH | Protein | uniprot:Q02127 | |
ACT | Protein | kegg.genes:2.1.3.2 | |
beta-alanine-pyruvate transaminase | Protein | eccode:2.6.1.18 | |
CPS2 | Protein | eccode:6.3.5.5 | |
RR | Protein | eccode:1.17.4.1 | |
DHP | Protein | uniprot:Q14117 | AKA DPYS |
CPS2 | Protein | eccode:6.3.5.5 | |
DHO | Protein | eccode:3.5.2.3 | |
ACT | Protein | kegg.genes:2.1.3.2 | |
OPRT | Protein | eccode:2.4.2.10 | |
OMPDC | Protein | eccode:4.1.1.23 | |
UMPH2 | Protein | uniprot:Q8TCD5 | aka NT5CEnzymes and reactions added with info from https://www.omim.org/entry/606224 |
UMPH | Protein | eccode:3.1.3.5 | aka P5NEnzymes and reactions added with info from https://www.omim.org/entry/606224 |
UMPH1 | Protein | uniprot:Q9H0P0 | aka P5N1Enzymes and reactions added with info from https://www.omim.org/entry/606224 |
UMPH2 | Protein | uniprot:Q8TCD5 | aka NT5CEnzymes and reactions added with info from https://www.omim.org/entry/606224 |
UMPH | Protein | eccode:3.1.3.5 | aka P5NEnzymes and reactions added with info from https://www.omim.org/entry/606224 |
RRM1 | Protein | uniprot:P23921 | |
ABAT | Protein | uniprot:P80404 |
References
- Blau N, Duran M, Gibson KM, Dionisi-Vici C. Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases [Internet]. Springer; 2014. 867 p. Available from: https://books.google.com/books/about/Physician_s_Guide_to_the_Diagnosis_Treat.html?hl=&id=wJRBnwEACAAJ OpenLibrary Worldcat
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