NUDT6 (Nudix Hydrolase 6)
A member of the nudix hydrolase family involved in nucleotide metabolism and cellular stress responses.
Gene Information Card
| Symbol | NUDT6 |
|---|---|
| Full Name | Nudix Hydrolase 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q28.2 |
| NCBI Gene ID | 11162 ncbi.nlm.nih.gov/gene/11162 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | O95861 |
| OMIM ID | 609229 |
| HGNC ID | 8053 |
| Aliases | ASF1B, DKFZp434B041, MGC117215 |
Description
NUDT6 encodes a member of the nudix hydrolase family, enzymes that hydrolyze nucleoside diphosphate derivatives. The protein specifically hydrolyzes 8-oxo-dGDP and 8-oxo-GDP, which are oxidized forms of guanine nucleotides, thereby protecting cells from oxidative damage. NUDT6 is also implicated in cellular signaling and may play a role in cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect nucleotide pool sanitization and oxidative stress response, influencing tumorigenesis. | COSMIC; literature |
| Oxidative stress-related disorders | Deficiency in hydrolyzing oxidized nucleotides may lead to genomic instability. | UniProt; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.0 | Embryonic kidney cells |
| HeLa | 7.5 | Cervical cancer cells |
| K562 | 6.8 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Unknown functional impact; rare in population |
| c.458G>A (p.Arg153Gln) | Missense | <0.01% | Unknown functional impact; rare in population |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
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)
| • magnesium ion binding (GO:0000287) | • 8-oxo-7 (GO:0008413) |
| • manganese ion binding (GO:0030145) | • metal ion binding (GO:0046872) |
| • cytoplasm (GO:0005737) | • cytosol (GO:0005829) |
Pathways
• hsa00230 - Purine metabolism
• hsa00480 - Glutathione metabolism
• hsa05206 - MicroRNAs in cancer
Protein Summary
NUDT6 is a 219-amino acid protein belonging to the nudix hydrolase superfamily. It contains a conserved nudix box motif (GX5EX7REUXEEXGU, where U is a hydrophobic residue). The enzyme catalyzes the hydrolysis of 8-oxo-dGDP and 8-oxo-GDP to the corresponding monophosphates, preventing incorporation of oxidized nucleotides into DNA/RNA. It is localized in the cytoplasm and cytosol.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUDT6 Knockout HEK293 Cell Line | EDJ-KQ7310 | Human | 11162 | Details Get a Quote |
| NUDT6 Knockout HCT 116 Cell Line | EDJ-KQ30994 | Human | 11162 | Details Get a Quote |
| NUDT6 Knockout A-549 Cell Line | EDJ-KQ32367 | Human | 11162 | Details Get a Quote |
| NUDT6 Knockout HeLa Cell Line | EDJ-KQ32369 | Human | 11162 | Details Get a Quote |
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