DUT
Deoxyuridine Triphosphatase
Gene Information Card
| Symbol | DUT |
|---|---|
| Full Name | Deoxyuridine Triphosphatase |
| Gene Type | Protein coding |
| Chromosomal Location | 15q21.1 |
| NCBI Gene ID | 1854 ncbi.nlm.nih.gov/gene/1854 |
| Ensembl ID | ENSG00000137869 |
| UniProt ID | P33316 |
| OMIM ID | 601266 |
| HGNC ID | 3070 |
| Aliases | dUTPase, DUT-N, DUT-M |
Description
The DUT gene encodes deoxyuridine triphosphatase (dUTPase), an essential enzyme that catalyzes the hydrolysis of dUTP to dUMP and pyrophosphate. This reaction prevents uracil incorporation into DNA and provides dUMP for thymidylate biosynthesis. DUT is critical for maintaining genomic integrity and nucleotide pool balance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary cancer-predisposing syndrome | Loss of DUT function leads to uracil misincorporation and genomic instability, increasing cancer risk. | ClinVar |
| Colorectal cancer | Altered DUT expression and activity contribute to nucleotide pool imbalances and DNA damage in colorectal tumors. | COSMIC |
| Breast cancer | DUT overexpression is associated with poor prognosis and resistance to thymidylate synthase inhibitors. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 17.2 | High |
| Bone marrow | 14.8 | High |
| Spleen | 13.5 | High |
| Liver | 9.1 | Medium |
| Kidney | 7.3 | Medium |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 18.5 | Leukemia cell line |
| HeLa | 15.2 | Cervical carcinoma |
| A549 | 12.8 | Lung carcinoma |
| MCF7 | 10.4 | Breast carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.94G>A (p.Gly32Arg) | Missense | 0.001% | Reduced enzyme activity, increased uracil misincorporation |
| c.202C>T (p.Arg68Trp) | Missense | 0.0005% | Impaired dUTP binding, loss of function |
| c.337_338del (p.Leu113fs) | Frameshift | <0.0001% | Premature truncation, complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations reduce or abolish dUTPase activity, leading to uracil accumulation in DNA and genomic instability.
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)
| • dUTP diphosphatase activity (GO:0004170) | • magnesium ion binding (GO:0000287) |
| • dUMP biosynthetic process (GO:0006222) | • DNA replication (GO:0006260) |
| • DNA damage response (GO:0006974) |
Pathways
• Pyrimidine metabolism (Reactome: R-HSA-500753)
• Nucleotide salvage (Reactome: R-HSA-74217)
Protein Summary
The DUT protein (dUTPase) is a homotrimeric enzyme that hydrolyzes dUTP to dUMP and pyrophosphate. It exists in nuclear (DUT-N) and mitochondrial (DUT-M) isoforms. The enzyme is essential for preventing uracil incorporation into DNA and for providing dUMP for thymidylate synthesis. Its activity is critical in rapidly dividing cells and is a target for cancer chemotherapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DUT Knockout HEK293 Cell Line | EDJ-KQ50247 | Human | 1854 | Details Get a Quote |
| DUT Knockout HeLa Cell Line | EDJ-KQ53131 | Human | 1854 | Details Get a Quote |
| DUT Knockout A-549 Cell Line | EDJ-KQ61604 | Human | 1854 | Details Get a Quote |
| DUT Knockout HCT 116 Cell Line | EDJ-KQ70092 | Human | 1854 | Details Get a Quote |
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