DPYS Gene (Dihydropyrimidinase)
DPYS encodes dihydropyrimidinase, an enzyme involved in pyrimidine degradation; mutations cause dihydropyrimidinase deficiency.
Gene Information Card
| Symbol | DPYS |
|---|---|
| Full Name | dihydropyrimidinase |
| Gene Type | protein-coding |
| Chromosomal Location | 8q22.3 |
| NCBI Gene ID | 1807 ncbi.nlm.nih.gov/gene/1807 |
| Ensembl ID | ENSG00000147677 |
| UniProt ID | Q14117 |
| OMIM ID | 222748 |
| HGNC ID | 3012 |
| Aliases | DHP, DHPase, dihydropyrimidinase |
Description
The DPYS gene encodes dihydropyrimidinase, a zinc-dependent enzyme that catalyzes the second step of pyrimidine degradation, converting dihydrouracil and dihydrothymine to N-carbamoyl-β-alanine and N-carbamoyl-β-aminoisobutyric acid, respectively. Mutations in DPYS cause dihydropyrimidinase deficiency, an autosomal recessive disorder characterized by elevated levels of dihydropyrimidines in urine and variable neurological symptoms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dihydropyrimidinase deficiency | Loss-of-function mutations in DPYS impair pyrimidine catabolism, leading to accumulation of dihydrouracil and dihydrothymine. | ClinVar, OMIM #222748 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small intestine | 6.1 | Low |
| Brain | 4.2 | Low |
| Lung | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Liver cancer cell line |
| HEK 293 | 7.4 | Embryonic kidney cells |
| A549 | 3.5 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function; associated with dihydropyrimidinase deficiency |
| c.130G>A (p.Gly44Arg) | Missense | Rare | Reduced enzyme activity; pathogenic |
| c.680T>C (p.Leu227Pro) | Missense | Rare | Impaired protein stability; pathogenic |
Mutation functional classification
Loss of Function (LOF)
Most DPYS mutations result in loss of enzymatic activity, causing dihydropyrimidinase deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • dihydropyrimidinase activity (GO:0004157) | • zinc ion binding (GO:0008270) |
| • uracil catabolic process (GO:0006212) | • thymine catabolic process (GO:0006213) |
| • cytoplasm (GO:0005737) |
Pathways
• Pyrimidine degradation (Reactome: R-HSA-73621)
Protein Summary
Dihydropyrimidinase is a homodimeric zinc metalloenzyme localized in the cytoplasm. It catalyzes the reversible hydrolysis of dihydrouracil and dihydrothymine to their respective N-carbamoyl derivatives. The protein is expressed predominantly in liver and kidney, consistent with its role in pyrimidine catabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DPYSL5 Knockout HEK293 Cell Line | EDJ-KQ2522 | Human | 56896 | Details Get a Quote |
| DPYSL2 Knockout HEK293 Cell Line | EDJ-KQ3136 | Human | 1808 | Details Get a Quote |
| DPYS Knockout HEK293 Cell Line | EDJ-KQ4473 | Human | 1807 | Details Get a Quote |
| DPYSL3 Knockout HEK293 Cell Line | EDJ-KQ4475 | Human | 1809 | Details Get a Quote |
| DPYSL4 Knockout HEK293 Cell Line | EDJ-KQ7094 | Human | 10570 | Details Get a Quote |
| DPYSL5 Knockout A-549 Cell Line | EDJ-KQ23135 | Human | 56896 | Details Get a Quote |
| DPYSL5 Knockout HCT 116 Cell Line | EDJ-KQ23136 | Human | 56896 | Details Get a Quote |
| DPYSL3 Knockout HCT 116 Cell Line | EDJ-KQ27039 | Human | 1809 | Details Get a Quote |
| DPYSL3 Knockout HeLa Cell Line | EDJ-KQ27040 | Human | 1809 | Details Get a Quote |
| DPYSL4 Knockout A-549 Cell Line | EDJ-KQ31939 | Human | 10570 | Details Get a Quote |
| DPYSL4 Knockout HCT 116 Cell Line | EDJ-KQ31940 | Human | 10570 | Details Get a Quote |
| DPYSL2 Knockout A-549 Cell Line | EDJ-KQ24513 | Human | 1808 | Details Get a Quote |
| DPYSL2 Knockout HCT 116 Cell Line | EDJ-KQ24514 | Human | 1808 | Details Get a Quote |
| DPYSL2 Knockout HeLa Cell Line | EDJ-KQ24515 | Human | 1808 | Details Get a Quote |
| DPYSL3 Knockout A-549 Cell Line | EDJ-KQ25777 | Human | 1809 | Details Get a Quote |
Displaying Records 1 To 15 Of 20 Records
