DPYD Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | DPYD |
| Official Name | dihydropyrimidine dehydrogenase [Source:HGNC Symbol;Acc:HGNC:3012] |
| Ensembl ID | ENSG00000188641 |
| Bio databases IDs | |
| Aliases | dihydropyrimidine dehydrogenase, Dihydrothymine dehydrogenase, Dihydrouracil dehydrogenase |
| Synonyms | DHP, DHPDHASE, dihydropyrimidine dehydrogenase, DPD, DYPD, E330028L06Rik |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DPYD often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 4Fe-4S dicluster domain
- flavin adenine dinucleotide binding
- Dihydroprymidine dehydrogenase domain II, 4Fe-4S cluster
- dihydroorotate dehydrogenase (subfamily 1) family protein
- iron ion binding
- enzyme
- protein binding
- identical protein binding
- PRK11749
- FAD binding
- binding protein
- NADP binding
- dihydropyrimidine dehydrogenase (NADP)
- FMN binding
- TIM-like beta/alpha barrel domains
- Pyridine nucleotide-disulphide oxidoreductase
- dihydroorotate dehydrogenase, subfamily 2
- protein homodimerization
- dihydropyrimidine dehydrogenase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-small cell lung cancer
- HIV infection
- schizophrenia
- gastroesophageal reflux
- esophagogastric junction cancer
- pancreatic cancer
- head and neck cancer
- gastric cancer
- metastatic gastric cancer
- diarrhea
regulates
- dTMP
- 5-fluorouracil
- 5'-CMP
- pyrimidine
- fluoropyrimidine
- uracil
- thymidine
- thymine
- pyrimidine base
- capecitabine
role in cell
- cell viability
- cell death
- response
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DPYD gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- pyrimidine base catabolic process
- dUMP catabolic process
- beta-alanine biosynthetic process
- purine base catabolic process
- uracil catabolic process
- thymine catabolic process
- CMP catabolic process
- UMP catabolic process
- dCMP catabolic process
- thymidine catabolic process
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- NADP binding
- protein homodimerization activity
- protein binding
- flavin adenine dinucleotide binding
- metal ion binding
- dihydropyrimidine dehydrogenase (NADP+) activity
- 4 iron, 4 sulfur cluster binding
- uracil binding