Pyrimidine metabolism and related diseases (Homo sapiens)

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1uracilOTCDHO2-DeoxyuridineOMPDCN-Carbamyl-beta-aminoisobutyric acidCTPthymidine phosphorylase deficiencyOrotidylic acidCarbamoyl-phosphatethymineUTPcitrullineCPS1dUMPDHODHUPN-CarbamoylaspartateOrotateOrnithineUDPOPRTdTMPN-Carbamoyl-beta-alaninethymidineuridineACTuridine(S)-beta-aminoisobutyrateCPS2UMPdihydrothyminebeta-AlanineTSRRglutaminecytidineDihydrouracildUDPorotidinedihydroorotateDPDTPOrotatedihydroorotateCarbamoyl-phosphateglutamineDPDDHPUPDHPTPDihydropyrimidine dehydrogenase deficiencyDihydropyrimidinuriaBeta-ureidopropionase deficiencyOROTIC ACIDURIAURIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TOHYPER-BETA-ALANINEMIABETA-AMINOISOBUTYRIC ACIDURIA; BAIBARIBONUCLEOTIDE REDUCTASE, M2 B; RRM2B


Description

Overview of pyrimidine metabolism and related diseases

Quality Tags

Ontology Terms

 

Bibliography

  1. 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.''; , 2006 PubMed Europe PMC
  2. Shanti Balasubramaniam, John A. Duley, John Christodoulou; ''Inborn errors of pyrimidine metabolism: clinical update and therapy''; Journal of Inherited Metabolic Disease, 2014 PubMed Europe PMC
  3. Assmann B, Gohlich G, Baethmann M, Wevers RA, et al.; ''Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency''; Neuropediatrics, 2006 PubMed Europe PMC
  4. van Kuilenburg AB; ''Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil''; Eur J Cancer, 2004 PubMed Europe PMC
  5. Blau, N., Duran, M., Gibson, K.M., Donisi-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

History

View all...
CompareRevisionActionTimeUserComment
108218view12:35, 29 November 2019FehrhartOntology Term : 'disease pathway' added !
107162view14:24, 17 September 2019MaintBotChEBI identifier normalization
104804view17:43, 18 June 2019IreneHemelAdded legend
104311view07:49, 16 May 2019IreneHemelChanged first letters of text in node to capitals
104157view07:40, 7 May 2019IreneHemelAdded information about metabolite charge to DataNode comments
104043view12:02, 26 April 2019IreneHemelChanged conversion from Glutamine to glutamate and NH4+
103986view08:11, 24 April 2019DeSlModified description
103968view09:19, 18 April 2019IreneHemelChanged sizes of disease nodes
103920view08:04, 16 April 2019IreneHemelChanged urea cycle label to pathway node
103919view08:00, 16 April 2019IreneHemelUpdated OMIM links for several diseases
103918view07:48, 16 April 2019IreneHemelRemoved symbols in names references
103917view07:44, 16 April 2019IreneHemelChanged disease names to primary names in Blau book; Added alternative names diseases
103914view15:05, 15 April 2019IreneHemelModified description
103912view15:00, 15 April 2019IreneHemelModified description
103910view13:52, 15 April 2019IreneHemelModified description
103909view13:51, 15 April 2019IreneHemelModified description
103902view13:46, 15 April 2019IreneHemelChanged basic interaction to mim-conversion for side metabolites; changed lines for 2 diseases to graphical line
103901view13:39, 15 April 2019IreneHemelChanged separate complexes; added different options for RR
103894view07:41, 15 April 2019IreneHemelModified description
103884view12:52, 12 April 2019IreneHemelAdded literature
103858view11:57, 11 April 2019IreneHemelAdded disease and enzyme related to this disease
103853view10:13, 11 April 2019IreneHemelMoved complexes to separate part of pathway, added complex IDs
103852view09:50, 11 April 2019IreneHemelAdded Rhea IDs, split reaction into two parts, added alternative names for some metabolites
103848view06:51, 11 April 2019IreneHemelAdded Rhea IDs
103841view14:57, 10 April 2019IreneHemelAdded more Rhea IDs
103838view14:03, 10 April 2019IreneHemelAdded Rhea IDs for several reactions
103813view08:55, 9 April 2019IreneHemelAdded disease
103812view08:46, 9 April 2019IreneHemelAdded Uniprot IDs
103811view08:22, 9 April 2019IreneHemelChanged datanodes for enzymes from geneproduct to protein
102678view09:28, 17 January 2019DeSlModified description
102677view09:26, 17 January 2019DeSlChanged interactions to graphical lines for diseases.
98925view05:21, 16 October 2018EgonwModified description
98283view11:19, 16 August 2018EgonwReplaced secondary ChEBI IDs with primary IDs.
98262view12:59, 15 August 2018DeSlModified description
98261view12:57, 15 August 2018DeSlAdded IDs
98260view11:58, 15 August 2018DeSlAdded more IDs.
98259view11:49, 15 August 2018DeSlAdded IDs for added metabolites
98258view11:43, 15 August 2018DeSlConnected some more steps between CTP and cytidine; connected last diseases (several IDs where just for the gene, not the disease).
98257view10:55, 15 August 2018DeSlChanged diseases to textlabels, changed layout slightly.
98256view09:51, 15 August 2018DeSlModified description
98202view09:41, 7 August 2018MkutmonModified title
96741view06:02, 2 April 2018EgonwReplaced secondary ChEBI identifiers with primary identifiers.
96674view08:21, 26 March 2018DeSlAdded more disease nodes (still have to connect them to related proteins).
96668view13:37, 25 March 2018DeSlAdded complex linked to diseases
96667view13:21, 25 March 2018DeSlAdded more side metabolites, changed color of marker metabolites to purple
96666view13:09, 25 March 2018DeSlModified description
96546view21:18, 17 March 2018DeSlOntology Term : 'beta-ureidopropionase deficiency pathway' added !
96545view21:17, 17 March 2018DeSlOntology Term : 'dihydropyrimidine dehydrogenase deficiency pathway' added !
96544view21:17, 17 March 2018DeSlOntology Term : 'dihydropyrimidine dehydrogenase deficiency' added !
96543view21:17, 17 March 2018DeSlOntology Term : 'oroticaciduria 1 disease pathway' added !

External references

DataNodes

View all...
NameTypeDatabase referenceComment
(S)-beta-aminoisobutyrateMetaboliteCHEBI:18188 (ChEBI)
2-DeoxyuridineMetaboliteCHEBI:4434 (ChEBI)
ACTGeneProduct2.1.3.2 (KEGG Genes)
BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA210100 (OMIM)
Beta-ureidopropionase deficiency613161 (OMIM)
CPS1GeneProduct6.3.4.16 (KEGG Genes)
CPS2GeneProduct6.3.5.5 (Enzyme Nomenclature)
CTPMetaboliteCHEBI:3285 (ChEBI)
Carbamoyl-phosphateMetaboliteCHEBI:17672 (ChEBI)
DHOGeneProduct
DHODHMetaboliteCHEBI:77103 (ChEBI)
DHPProteinQ14117 (Uniprot-TrEMBL)
DPDGeneProduct
DPDProteinQ12882 (Uniprot-TrEMBL)
Dihydropyrimidine dehydrogenase deficiency274270 (OMIM)
Dihydropyrimidinuria613326 (OMIM)
DihydrouracilMetaboliteCHEBI:1999 (ChEBI)
HYPER-BETA-ALANINEMIA237400 (OMIM)
N-Carbamoyl-beta-alanineMetaboliteCHEBI:1671 (ChEBI)
N-CarbamoylaspartateMetaboliteCHEBI:15859 (ChEBI)
N-Carbamyl-beta-aminoisobutyric acidMetaboliteCHEBI:1670 (ChEBI)
OMPDCGeneProduct4.1.1.23 (Enzyme Nomenclature)
OPRTGeneProduct2.4.2.10 (Enzyme Nomenclature)
OROTIC ACIDURIA258900 (OMIM)
OTCProteinP00480 (Uniprot-TrEMBL)
OrnithineMetaboliteCHEBI:16176 (ChEBI)
OrotateMetaboliteCHEBI:16742 (ChEBI)
Orotidylic acidMetaboliteCHEBI:7788 (ChEBI)
RIBONUCLEOTIDE REDUCTASE, M2 B; RRM2B604712 (OMIM)
RRGeneProduct1.17.4.1 (Enzyme Nomenclature)
TPProteinE5KRG5 (Uniprot-TrEMBL)
TSProteinP04818 (Uniprot-TrEMBL)
UDPMetaboliteCHEBI:9802 (ChEBI)
UMPMetaboliteCHEBI:9849 (ChEBI)
UPProteinF8WC94 (Uniprot-TrEMBL)
URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO266120 (OMIM)
UTPMetaboliteCHEBI:46398 (ChEBI)
beta-AlanineMetaboliteCHEBI:10343 (ChEBI)
citrullineMetaboliteCHEBI:14002 (ChEBI)
cytidineMetaboliteCHEBI:17562 (ChEBI)
dTMPMetaboliteCHEBI:26999 (ChEBI)
dUDPMetaboliteCHEBI:10531 (ChEBI)
dUMPMetaboliteCHEBI:10532 (ChEBI)
dihydroorotateMetaboliteQ27114007 (Wikidata)
dihydrothymineMetaboliteQ3027885 (Wikidata)
glutamineMetaboliteCHEBI:28300 (ChEBI)
orotidineMetaboliteCHEBI:25722 (ChEBI)
thymidine phosphorylase deficiency131222 (OMIM)
thymidineMetaboliteCHEBI:17748 (ChEBI)
thymineMetaboliteCHEBI:17821 (ChEBI)
uracilMetaboliteCHEBI:17568 (ChEBI)
uridineMetaboliteCHEBI:16704 (ChEBI)

Annotated Interactions

No annotated interactions

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