DPYS Gene Summary [Human]
Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria. [provided by RefSeq, Jul 2008]
Details
| Type | Processed Transcript |
| Official Symbol | DPYS |
| Official Name | dihydropyrimidinase [Source:HGNC Symbol;Acc:HGNC:3013] |
| Ensembl ID | ENSG00000147647 |
| Bio databases IDs | |
| Aliases | dihydropyrimidinase |
| Synonyms | 1200017I10Rik, 1300004I01Rik, DHP, DHPase, dihydropyrimidinase, Hydantoinase, Ulip5 |
| 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 DPYS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- zinc ion binding
- dihydropyrimidinase
- dihydroorotase, multifunctional complex type
- Amidohydrolase family
- phosphoprotein binding
- enzyme
- metallo-dependent_hydrolases
- protein binding
- identical protein binding
- D-hydantoinase
- amino acid binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- epithelial cancer
- hallux valgus
- pigmented villonodular synovitis
- dihydropyrimidinase deficiency
- liver cancer
- Wilms tumor
- Wilms tumorigenesis
- hereditary disorder
- chronic obstructive pulmonary disease
regulates
- uracil
- dCMP
- dUMP
- pyrimidine base
- UMP
- beta-alanine
- thymine
- 5'-CMP
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 DPYS 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
- uracil catabolic process
- thymine catabolic process
- CMP catabolic process
- dCMP catabolic process
- UMP catabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytosol
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- zinc ion binding
- protein binding
- phosphoprotein binding
- dihydropyrimidinase activity