Pyrimidine metabolism and related diseases (WP4225)

Overview of pyrimidine metabolism and related diseases
last edited

Authors

Roel, DeSl, Egonw, Mkutmon, IreneHemel, MaintBot, Fehrhart, and Finterly

Cited In

Organism

Homo sapiens

Communities

Inborn Errors of Metabolism (IEM) Pathways Rare Diseases

Annotations

Pathway Ontology: pyrimidine metabolic pathway inborn error of purine-pyrimidine metabolism pathway disease pathway dihydropyrimidine dehydrogenase deficiency pathway beta-ureidopropionase deficiency pathway orotic aciduria 1 pathway

Disease Ontology: pyrimidine metabolic disorder dihydropyrimidine dehydrogenase deficiency orotic aciduria

Participants

Label Type Compact Identifier
Urea cycle Pathway wikipathways:WP4571
(S)-Beta-aminoisobutyrate Metabolite chebi:57731
Glutamine Metabolite chebi:58359
Orotate Metabolite chebi:30839
RRM1 Protein uniprot:P23921
UTP Metabolite chebi:46398
UMPS-complex GeneProduct uniprot:P11172
RRM2 Protein uniprot:P31350
Carbamoyl-phosphate Metabolite chebi:58228
RRM2B Protein uniprot:Q7LG56
CoQ10 Metabolite chebi:46245
TK2 Protein uniprot:O00142
Thymidine Metabolite chebi:17748
OMP Metabolite chebi:57538
OTC Protein uniprot:P00480
DPD Protein uniprot:Q12882
Aspartate Metabolite chebi:29991
DHO Protein eccode:3.5.2.3
Carbamoylaspartate Metabolite chebi:32814
CDP Metabolite chebi:58069
GLS2 Protein uniprot:Q9UI32
RRM2B Protein uniprot:Q7LG56
UMPH1 Protein uniprot:Q9H0P0
N-Carbamoyl-beta-alanine Metabolite chebi:11892
UP Protein uniprot:Q9UBR1
CPS1 Protein uniprot:P31327
Uridine Metabolite chebi:16704
CoQ10 - H2 (reduced) Metabolite chebi:64183
Ornithine Metabolite chebi:46911
Dihydrouracil Metabolite chebi:15901
Cytidine Metabolite chebi:17562
Dihydrothymine Metabolite chebi:27468
TS Protein uniprot:P04818
OPRT Protein eccode:2.4.2.10
UMP Metabolite chebi:57865
Citrulline Metabolite chebi:57743
dUDP Metabolite chebi:60471
OMPDC Protein eccode:4.1.1.23
TP Protein uniprot:P19971
dUMP Metabolite chebi:246422
DHODH Protein uniprot:Q02127
Uracil Metabolite chebi:17568
CMP Metabolite chebi:60377
ACT Protein kegg.genes:2.1.3.2
Orotidine Metabolite chebi:25722
N-Carbamyl-beta-aminoisobutyric acid Metabolite chebi:74414
CTP Metabolite chebi:37563
Beta-alanine Metabolite chebi:57966
PRPP Metabolite chebi:17111
UDP Metabolite chebi:58223
Riboflavin and CoQDisorders Pathway wikipathways:WP5037
Uridine Metabolite chebi:16704
CPS2 Protein eccode:6.3.5.5
Thymine Metabolite chebi:17821
HCO3- Metabolite chebi:17544
CAD-complex GeneProduct uniprot:P27708
2-Deoxyuridine Metabolite chebi:16450
dTMP Metabolite chebi:63528
RR Protein eccode:1.17.4.1
Orotate Metabolite chebi:30839
Dihydroorotate Metabolite chebi:30864
Carbamoyl-phosphate Metabolite chebi:58228
Glutamine Metabolite chebi:58359
DHP Protein uniprot:Q14117
HCO3- Metabolite chebi:17544
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
+ PRPP Metabolite chebi:17111
UMPH2 Protein uniprot:Q8TCD5
UMPH Protein eccode:3.1.3.5
UMPH1 Protein uniprot:Q9H0P0
UMPH2 Protein uniprot:Q8TCD5
UMPH Protein eccode:3.1.3.5
Glutamate Metabolite chebi:29985
NH4+ Metabolite chebi:28938
RRM1 Protein uniprot:P23921
Dihydroorotate Metabolite chebi:30864

References

  1. van Kuilenburg ABP. Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil. Eur J Cancer. 2004 May;40(7):939–50. PubMed Europe PMC Scholia
  2. Qiu W, Zhou B, Darwish D, Shao J, Yen Y. Characterization of enzymatic properties of human ribonucleotide reductase holoenzyme reconstituted in vitro from hRRM1, hRRM2, and p53R2 subunits. Biochem Biophys Res Commun. 2006 Feb 10;340(2):428–34. PubMed Europe PMC Scholia
  3. Assmann B, Göhlich G, Baethmann M, Wevers RA, Van Gennip AH, Van Kuilenburg ABP, et al. Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency. Neuropediatrics. 2006 Feb;37(1):20–5. PubMed Europe PMC Scholia
  4. Balasubramaniam S, Duley JA, Christodoulou J. Inborn errors of pyrimidine metabolism: clinical update and therapy. J Inherit Metab Dis. 2014 Sep;37(5):687–98. PubMed Europe PMC Scholia
  5. Kaymak I, Maier CR, Schmitz W, Campbell AD, Dankworth B, Ade CP, et al. Mevalonate Pathway Provides Ubiquinone to Maintain Pyrimidine Synthesis and Survival in p53-Deficient Cancer Cells Exposed to Metabolic Stress. Cancer Res. 2020 Jan 15;80(2):189–203. PubMed Europe PMC Scholia
  6. PubMed Europe PMC Scholia