NUDT17
Nudix Hydrolase 17
Gene Information Card
| Symbol | NUDT17 |
|---|---|
| Full Name | Nudix Hydrolase 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 200626 ncbi.nlm.nih.gov/gene/200626 |
| Ensembl ID | ENSG00000143149 |
| UniProt ID | Q5VZP5 |
| OMIM ID | 615655 |
| HGNC ID | 26410 |
| Aliases | MGC131914, MGC14891 |
Description
NUDT17 (Nudix Hydrolase 17) is a protein-coding gene belonging to the Nudix hydrolase family. The encoded enzyme hydrolyzes nucleoside diphosphate derivatives, including NADH and ADP-ribose, and may play a role in cellular metabolism and signaling. NUDT17 is expressed in multiple tissues and is implicated in oxidative stress response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Heart | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | 0.0004% (gnomAD) | Unknown functional effect |
| c.458G>A (p.Arg153Gln) | Missense | 0.0002% (gnomAD) | Unknown functional effect |
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 confirmed dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • magnesium ion binding (GO:0000287) | • hydrolase activity (GO:0016787) |
| • metal ion binding (GO:0046872) | • NADH pyrophosphatase activity (GO:0050136) |
| • cytoplasm (GO:0005737) |
Pathways
• NAD+ metabolism
• Purine metabolism
Protein Summary
NUDT17 encodes a 236-amino acid protein (UniProt Q5VZP5) with a Nudix hydrolase domain. The protein catalyzes the hydrolysis of NADH and ADP-ribose, regulating intracellular nucleotide pools. It is localized in the cytoplasm and may protect cells from oxidative damage by eliminating toxic nucleotide derivatives.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUDT17 Knockout HEK293 Cell Line | EDJ-KQ4355 | Human | 200035 | Details Get a Quote |
| NUDT17 Knockout A-549 Cell Line | EDJ-KQ26855 | Human | 200035 | Details Get a Quote |
| NUDT17 Knockout HCT 116 Cell Line | EDJ-KQ26856 | Human | 200035 | Details Get a Quote |
| NUDT17 Knockout HeLa Cell Line | EDJ-KQ26857 | Human | 200035 | Details Get a Quote |
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