NUDT8
Nudix Hydrolase 8
Gene Information Card
| Symbol | NUDT8 |
|---|---|
| Full Name | Nudix Hydrolase 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p31.1 |
| NCBI Gene ID | 254552 ncbi.nlm.nih.gov/gene/254552 |
| Ensembl ID | ENSG00000162614 |
| UniProt ID | Q8N6M5 |
| OMIM ID | 618432 |
| HGNC ID | 26422 |
| Aliases | NUDT8, MGC13170 |
Description
NUDT8 encodes a member of the Nudix hydrolase family. The protein catalyzes the hydrolysis of nucleoside diphosphate derivatives, including ADP-ribose, to AMP and ribose-5-phosphate. It plays a role in cellular metabolism and detoxification of potentially harmful nucleotide metabolites.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | No direct evidence in ClinVar or OMIM for disease-causing mutations |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.2 | Low |
| Liver | 6.1 | Low |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.0 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 5.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337G>A (p.Gly113Arg) | Missense | <0.01% (gnomAD) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported
Gain of Function (GOF)
No confirmed gain-of-function variants reported
Dominant Negative (DN)
No evidence
View complete mutation data：
Gene Ontology (GO)
| • ADP-ribose diphosphatase activity | • nucleoside diphosphate phosphatase activity |
| • magnesium ion binding | • hydrolase activity |
| • cytoplasm |
Pathways
• ADP-ribose metabolism
• Nudix hydrolase pathway
Protein Summary
NUDT8 is a 219-amino acid protein containing a Nudix hydrolase domain. It specifically hydrolyzes ADP-ribose to AMP and ribose-5-phosphate, regulating intracellular ADP-ribose levels. The protein is localized in the cytoplasm and is expressed in multiple tissues, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUDT8 Knockout HEK293 Cell Line | EDJ-KQ11023 | Human | 254552 | Details Get a Quote |
| NUDT8 Knockout A-549 Cell Line | EDJ-KQ40175 | Human | 254552 | Details Get a Quote |
| NUDT8 Knockout HCT 116 Cell Line | EDJ-KQ40177 | Human | 254552 | Details Get a Quote |
| NUDT8 Knockout HeLa Cell Line | EDJ-KQ40178 | Human | 254552 | Details Get a Quote |
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