DPYD
Summary: The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| dihydropyrimidine dehydrogenase | MIM:612779 | Ensembl:ENSG00000188641 | HGNC:HGNC:3012 | PA145 | 1p21.3 |
Gene Categories:
DRUGGABLE GENOMEGO terms in DPYD
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0017113 | dihydropyrimidine dehydrogenase (NADP+) activity |
| MF | IDA | GO:0017113 | dihydropyrimidine dehydrogenase (NADP+) activity |
| MF | IMP | GO:0017113 | dihydropyrimidine dehydrogenase (NADP+) activity |
| MF | ISS | GO:0017113 | dihydropyrimidine dehydrogenase (NADP+) activity |
| MF | TAS | GO:0017113 | dihydropyrimidine dehydrogenase (NADP+) activity |
| MF | IDA | GO:0042803 | protein homodimerization activity |
| MF | ISS | GO:0042803 | protein homodimerization activity |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | ISS | GO:0050660 | flavin adenine dinucleotide binding |
| MF | ISS | GO:0050661 | NADP binding |
| MF | IEA | GO:0051539 | 4 iron, 4 sulfur cluster binding |
| BP | IMP | GO:0006145 | purine nucleobase catabolic process |
| BP | IMP | GO:0006208 | pyrimidine nucleobase catabolic process |
| BP | ISS | GO:0006208 | pyrimidine nucleobase catabolic process |
| BP | IDA | GO:0006210 | thymine catabolic process |
| BP | IBA | GO:0006212 | uracil catabolic process |
| BP | IDA | GO:0006212 | uracil catabolic process |
| BP | IDA | GO:0006214 | thymidine catabolic process |
| BP | IEA | GO:0019483 | beta-alanine biosynthetic process |
| BP | TAS | GO:0046135 | pyrimidine nucleoside catabolic process |
| BP | IEA | GO:0055114 | oxidation-reduction process |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
Gene expression in normal tissue: DPYD
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DPYD
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| pharmgkb | PA150653776 | Fluoropyrimidine Pathway, Pharmacokinetics |
| kegg | hsa00240 | Pyrimidine metabolism - Homo sapiens (human) |
| kegg | hsa00410 | beta-Alanine metabolism - Homo sapiens (human) |
| kegg | hsa00770 | Pantothenate and CoA biosynthesis - Homo sapiens (human) |
| kegg | hsa00983 | Drug metabolism - other enzymes - Homo sapiens (human) |
| humancyc | PWY-3982 | uracil degradation |
| humancyc | PWY-6430 | thymine degradation |
| humancyc | PWY-7209 | pyrimidine ribonucleosides degradation |
| smpdb | SMP00007 | Beta-Alanine Metabolism |
| smpdb | SMP00046 | Pyrimidine Metabolism |
| smpdb | SMP00172 | Beta Ureidopropionase Deficiency |
| smpdb | SMP00178 | Dihydropyrimidinase Deficiency |
| smpdb | SMP00202 | MNGIE (Mitochondrial Neurogastrointestinal Encephalopathy) |
| smpdb | SMP00219 | UMP Synthase Deiciency (Orotic Aciduria) |
| smpdb | SMP00351 | GABA-Transaminase Deficiency |
| smpdb | SMP00492 | Ureidopropionase deficiency |
| smpdb | SMP00493 | Carnosinuria, carnosinemia |
| wikipathways | WP1601 | Fluoropyrimidine Activity |
| wikipathways | WP3945 | TYROBP Causal Network |
| wikipathways | WP4022 | Pyrimidine metabolism |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-15869 | Metabolism of nucleotides |
| reactome | R-HSA-73621 | Pyrimidine catabolism |
| reactome | R-HSA-8956319 | Nucleobase catabolism |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD61 | Kinetin riboside | 2 |
| iGMDRD21 | Fluorouracil | 7 |
| iGMDRD152 | 179324-69-7 | 3 |
| iGMDRD85 | Ursolic acid | 1 |
| iGMDRD83 | Capecitabine | 7 |
| iGMDRD159 | 3-Chloro-L-alanine | 1 |
| iGMDRD387 | CHIR-99021 | 3 |
| iGMDRD599 | Salermide | 3 |
| iGMDRD151 | CHM-1 | 3 |
| iGMDRD554 | CHEMBL1434137 | 3 |
| iGMDRD670 | ML 210 | 6 |
| iGMDRD299 | ICL 670 | 3 |
| iGMDRD562 | Navitoclax | 6 |
| iGMDRD399 | Selumetinib | 5 |
| iGMDRD451 | Serdemetan | 3 |
| iGMDRD23 | Gossypol | 3 |
| iGMDRD246 | NPC26 | 3 |
| iGMDRD369 | TGX-115 | 3 |
| iGMDRD255 | SB225002 | 3 |
| iGMDRD43 | Tegafur | 7 |
| iGMDRD434 | BMS-536924 | 1 |
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in DPYD

