Pyrimidine metabolism and related diseases (Homo sapiens)

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1MitochondrionCAD-complexUrea cycleSubunit ofHyperammonaemiaOrnithineDHOTPorotidineOrotateHCO3-CPS1DHODHUTPbeta-AlanineCPS2cytidinethymidineCarbamoyl-phosphatethymidine phosphorylase deficiencyDPDCarbamoylaspartateuracilDihydrouracilCTP(S)-beta-aminoisobutyrateUPcitrullineUDPOPRTTSN-Carbamyl-beta-aminoisobutyric acidOMP2-DeoxyuridineuridineRRMTBUMPdUDPN-Carbamoyl-beta-alaninedUMPdihydroorotateOMPDCAspartatePRPPdTMPACTdihydrothymineglutaminethymineOTCRRuridineOrotatedihydroorotateCarbamoyl-phosphateglutamineDHPDihydropyrimidine dehydrogenase deficiencyDihydropyrimidinuriaBeta-ureidopropionase deficiencyOROTIC ACIDURIATYPE 1HEMOLYTIC ANEMIA DUE TOURIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCYHYPER-BETA-ALANINEMIABETA-AMINOISOBUTYRIC ACIDURIA; BAIBAMITOCHONDRIALRIBONUCLEOTIDE REDUCTASEsubunit 2DECICIENCYHCO3-CPS2DHOACTOPRTOMPDCUMPS-complex+ PRPPOROTIC ACIDURIATYPE 25-'-NUCLEOTIDASEDEFICIENCY (affecting NT5C3A)5-',3-'-NUCLEOTIDASEDEFICIENCY(affecting NT5C)5'-UMP hydrolaseSUPERACTIVITY5'-UMP hydrolaseSUPERACTIVITY


Description

Overview of pyrimidine metabolism and related diseases. Disorders resulting from an enzyme defect are highlighted in pink.

Metabolic markers are highlighted in dark purple. The link to the Urea cycle is depicted for clarity.

This pathway was inspired by Chapter 41 of the book of Blau(ISBN 978-3-642-40337-8).

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)
+ PRPPMetabolite
2-DeoxyuridineMetaboliteCHEBI:16450 (ChEBI)
5'-UMP hydrolase SUPERACTIVITY266120 (OMIM)
5-',3-'-NUCLEOTIDASE

DEFICIENCY

(affecting NT5C)
191720 (OMIM)
5-'-NUCLEOTIDASE

DEFICIENCY

(affecting NT5C3A)
606224 (OMIM)
ACTGeneProduct2.1.3.2 (KEGG Genes)
AspartateMetabolite
BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA210100 (OMIM)
Beta-ureidopropionase deficiency613161 (OMIM)
CPS1GeneProduct6.3.4.16 (KEGG Genes)
CPS2GeneProduct6.3.5.5 (Enzyme Nomenclature)
CTPMetaboliteCHEBI:17677 (ChEBI)
Carbamoyl-phosphateMetaboliteCHEBI:17672 (ChEBI)
CarbamoylaspartateMetaboliteCHEBI:15859 (ChEBI)
DHOGeneProduct
DHODHMetaboliteCHEBI:77103 (ChEBI)
DHPProteinQ14117 (Uniprot-TrEMBL)
DPDProteinQ12882 (Uniprot-TrEMBL)
Dihydropyrimidine dehydrogenase deficiency274270 (OMIM)
Dihydropyrimidinuria613326 (OMIM)
DihydrouracilMetaboliteCHEBI:15901 (ChEBI)
HCO3-Metabolite
HEMOLYTIC ANEMIA DUE TO

URIDINE 5-PRIME MONOPHOSPHATE

HYDROLASE DEFICIENCY
266120 (OMIM)
HYPER-BETA-ALANINEMIA237400 (OMIM)
MITOCHONDRIAL

RIBONUCLEOTIDE REDUCTASE subunit 2

DECICIENCY
604712 (OMIM)
N-Carbamoyl-beta-alanineMetaboliteCHEBI:18261 (ChEBI)
N-Carbamyl-beta-aminoisobutyric acidMetaboliteCHEBI:1670 (ChEBI)
OMPMetaboliteCHEBI:15842 (ChEBI) Orotidylic acid
OMPDCGeneProduct4.1.1.23 (Enzyme Nomenclature)
OPRTGeneProduct2.4.2.10 (Enzyme Nomenclature)
OROTIC

ACIDURIA

TYPE 1
258900 (OMIM)
OROTIC

ACIDURIA

TYPE 2
258920 (OMIM)
OTCProteinP00480 (Uniprot-TrEMBL)
OrnithineMetaboliteCHEBI:16176 (ChEBI)
OrotateMetaboliteCHEBI:16742 (ChEBI)
PRPPMetabolite
RRGeneProduct1.17.4.1 (Enzyme Nomenclature)
RRMTBProteinQ7LG56 (Uniprot-TrEMBL)
TPProteinE5KRG5 (Uniprot-TrEMBL)
TSProteinP04818 (Uniprot-TrEMBL)
UDPMetaboliteCHEBI:17659 (ChEBI)
UMPMetaboliteCHEBI:16695 (ChEBI)
UPProteinF8WC94 (Uniprot-TrEMBL)
UTPMetaboliteCHEBI:46398 (ChEBI)
beta-AlanineMetaboliteCHEBI:16958 (ChEBI)
citrullineMetaboliteCHEBI:18211 (ChEBI)
cytidineMetaboliteCHEBI:17562 (ChEBI)
dTMPMetaboliteCHEBI:63528 (ChEBI)
dUDPMetaboliteCHEBI:28850 (ChEBI)
dUMPMetaboliteCHEBI:17622 (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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