NUDT9
Nudix Hydrolase 9
Gene Information Card
| Symbol | NUDT9 |
|---|---|
| Full Name | Nudix Hydrolase 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q28.1 |
| NCBI Gene ID | 10543 ncbi.nlm.nih.gov/gene/10543 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | Q9BW91 |
| OMIM ID | 606022 |
| HGNC ID | 8056 |
| Aliases | ADPR-M1, ADPR-1, NUDT9L1, NUDT9L2 |
Description
NUDT9 encodes a member of the Nudix hydrolase family. The protein specifically hydrolyzes ADP-ribose to AMP and ribose-5-phosphate, and also acts on other nucleoside diphosphate derivatives. It localizes to mitochondria and may play a role in mitochondrial ADP-ribose metabolism and calcium signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes Mellitus, Type 2 | Potential role in insulin secretion via ADP-ribose metabolism | PMID: 15665377 |
| Coronary Artery Disease | Association with ADP-ribose signaling in vascular cells | PMID: 20526337 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Kidney | 10.1 | Medium |
| Pancreas | 6.5 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 9.8 | Medium expression |
| HepG2 | 7.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.001% (gnomAD) | Unknown functional effect |
| c.457G>A (p.Val153Ile) | Missense | 0.002% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ADP-ribose diphosphatase activity | • nucleoside diphosphate phosphatase activity |
| • mitochondrion | • magnesium ion binding |
| • ADP-ribose metabolic process |
Pathways
• ADP-ribose metabolism
• Purine metabolism
Protein Summary
NUDT9 is a mitochondrial ADP-ribose pyrophosphatase that hydrolyzes ADP-ribose to AMP and ribose-5-phosphate. It belongs to the Nudix hydrolase superfamily and is involved in regulating intracellular ADP-ribose levels, which may influence calcium signaling and mitochondrial function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUDT9 Knockout HEK293 Cell Line | EDJ-KQ11333 | Human | 53343 | Details Get a Quote |
| NUDT9 Knockout A-549 Cell Line | EDJ-KQ39491 | Human | 53343 | Details Get a Quote |
| NUDT9 Knockout HCT 116 Cell Line | EDJ-KQ39492 | Human | 53343 | Details Get a Quote |
| NUDT9 Knockout HeLa Cell Line | EDJ-KQ39493 | Human | 53343 | Details Get a Quote |
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