DNPH1: 2'-Deoxynucleoside 5'-Phosphate N-Hydrolase 1
A key enzyme in nucleotide metabolism and a potential target for cancer therapy
Gene Information Card
| Symbol | DNPH1 |
|---|---|
| Full Name | 2'-Deoxynucleoside 5'-Phosphate N-Hydrolase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 55262 ncbi.nlm.nih.gov/gene/55262 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q9H0P0 |
| OMIM ID | 617129 |
| HGNC ID | 25559 |
| Aliases | C6orf108, dJ330M20.3, RCL, c-Myc-responsive protein RCL |
Description
DNPH1 encodes a 2'-deoxynucleoside 5'-phosphate N-hydrolase that catalyzes the hydrolysis of 2'-deoxyribonucleoside 5'-monophosphates to generate the corresponding base and 2-deoxyribose 5-phosphate. This enzyme is involved in nucleotide metabolism and is a target of the c-Myc transcription factor, playing a role in cell proliferation and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Overexpression of DNPH1, driven by c-Myc, may promote nucleotide scavenging and cell proliferation. | COSMIC; PMID: 10652356 |
| Breast cancer | DNPH1 is overexpressed in breast cancer cell lines and primary tumors, potentially contributing to altered nucleotide metabolism. | COSMIC; PMID: 10652356 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Bone marrow | 9.8 | Medium |
| Spleen | 8.5 | Medium |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.1 | High expression |
| HeLa | 12.3 | High expression |
| MCF7 | 11.8 | High expression |
| K562 | 10.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon, predicted loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • Hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553) | • Nucleobase-containing compound metabolic process (GO:0006139) |
| • Cytoplasm (GO:0005737) |
Pathways
• ['Nucleotide metabolism (Reactome: R-HSA-15869)']
• ['Purine salvage (Reactome: R-HSA-74217)']
Protein Summary
DNPH1 is a 237-amino acid protein localized to the cytoplasm. It functions as a homodimer and catalyzes the hydrolysis of 2'-deoxyribonucleoside 5'-monophosphates, a key step in nucleotide salvage. The protein is regulated by c-Myc and is overexpressed in various cancers, suggesting a role in supporting rapid cell proliferation through nucleotide recycling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNPH1 Knockout HEK293 Cell Line | EDJ-KQ7104 | Human | 10591 | Details Get a Quote |
| DNPH1 Knockout A-549 Cell Line | EDJ-KQ31957 | Human | 10591 | Details Get a Quote |
| DNPH1 Knockout HCT 116 Cell Line | EDJ-KQ31958 | Human | 10591 | Details Get a Quote |
| DNPH1 Knockout HeLa Cell Line | EDJ-KQ31959 | Human | 10591 | Details Get a Quote |
