Pyrimidine metabolism (Homo sapiens)

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1CAD-complexSubunit ofHyperammonaemiaMitochondrionUrea cyclePRPPthymidineOPRTCarbamoyl-phosphateOMPDCdUDPRRTSCarbamoylaspartateCTPN-Carbamyl-beta-aminoisobutyric acidbeta-AlanineDPDDihydrouracildUMPOrotate(S)-beta-aminoisobutyratedTMPTPAspartateOMPUMPglutamineuridineHCO3-DHOOTCDHODHUPorotidineCPS2dihydrothymineN-Carbamoyl-beta-alanineCPS1citrullinethyminedihydroorotateUTP2-DeoxyuridineuracilcytidineRRMTBuridineACTthymidine phosphorylase deficiencyUDPOrnithineOrotatedihydroorotateCarbamoyl-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.

Quality Tags

Ontology Terms

 

Bibliography

  1. 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
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 !
96542view21:16, 17 March 2018DeSlOntology Term : 'orotic aciduria' added !
96541view21:14, 17 March 2018DeSlOntology Term : 'pyrimidine metabolic disorder' added !
96540view21:14, 17 March 2018DeSlOntology Term : 'pyrimidine metabolic pathway' added !
96539view21:13, 17 March 2018DeSlOntology Term : 'inborn error purine-pyrimidine metabolism disease pathway' added !
96536view21:11, 17 March 2018DeSlAdded lit. ref.
96531view20:58, 17 March 2018DeSlChanged KEGG genes datasource to Enzyme Nomenclature, removed EC for ID number.
96530view20:56, 17 March 2018DeSlAdded OMIM IDs for diseases
96268view22:21, 2 March 2018RoelModified description
96267view22:20, 2 March 2018RoelRemoved redundant node
96266view22:18, 2 March 2018RoelNew pathway

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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