DCTPP1 Gene: dCTP Pyrophosphatase 1
Genetic and functional insights into DCTPP1, a nucleotide metabolism enzyme with roles in cancer and immune response.
Gene Information Card
| Symbol | DCTPP1 |
|---|---|
| Full Name | dCTP pyrophosphatase 1 |
| Gene Type | protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 79077 ncbi.nlm.nih.gov/gene/79077 |
| Ensembl ID | ENSG00000161980 |
| UniProt ID | Q9H773 |
| OMIM ID | 610577 |
| HGNC ID | 24539 |
| Aliases | RSF, XTP3TPA |
Description
DCTPP1 encodes dCTP pyrophosphatase 1, an enzyme that hydrolyzes dCTP and other deoxyribonucleoside triphosphates, regulating nucleotide pools and preventing mutagenesis. It is involved in cellular defense against nucleotide damage and has been implicated in cancer progression and immune modulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression promotes tumor cell proliferation and survival; altered nucleotide pools may support DNA replication. | COSMIC: high expression in multiple cancer types; functional studies in cell lines. |
| Inflammatory diseases | Modulates immune response via nucleotide metabolism, potentially affecting T-cell function. | Limited evidence; inferred from expression in immune cells and pathway involvement. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Low |
| Brain | 5.2 | Low |
| Testis | 15.1 | Medium |
| Lung | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | High expression |
| K562 | 12.0 | Medium expression |
| MCF7 | 9.8 | Low expression |
| A549 | 14.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Val56Met | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| p.Arg87Trp | Missense | 0.005% (gnomAD) | Unknown; predicted damaging |
| p.Gly112Ser | Missense | 0.02% (gnomAD) | Unknown; likely neutral |
Mutation functional classification
Loss of Function (LOF)
Rare loss-of-function variants may reduce enzyme activity, leading to nucleotide pool imbalances and increased mutation rates.
Gain of Function (GOF)
No evidence for gain-of-function mutations; overexpression is more common in cancer.
Dominant Negative (DN)
No known dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • dCTP pyrophosphatase activity | • nucleoside-triphosphate diphosphatase activity |
| • metal ion binding | • nucleotide metabolic process |
| • DNA protection |
Pathways
• Purine metabolism
• Pyrimidine metabolism
• Nucleotide excision repair
Protein Summary
DCTPP1 is a 224-amino acid protein that belongs to the dCTP pyrophosphatase family. It catalyzes the hydrolysis of dCTP to dCMP and pyrophosphate, and also acts on other deoxyribonucleoside triphosphates. The protein is localized in the cytoplasm and nucleus, and its expression is regulated by p53. It plays a role in maintaining genomic stability by eliminating damaged nucleotides.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCTPP1 Knockout HEK293 Cell Line | EDJ-KQ51663 | Human | 79077 | Details Get a Quote |
| DCTPP1 Knockout HeLa Cell Line | EDJ-KQ57142 | Human | 79077 | Details Get a Quote |
| DCTPP1 Knockout A-549 Cell Line | EDJ-KQ65655 | Human | 79077 | Details Get a Quote |
| DCTPP1 Knockout HCT 116 Cell Line | EDJ-KQ74079 | Human | 79077 | Details Get a Quote |
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