NUDT5
Nudix Hydrolase 5 – Regulator of ADP-Ribose Metabolism and Nuclear ATP Synthesis
Gene Information Card
| Symbol | NUDT5 |
|---|---|
| Full Name | Nudix Hydrolase 5 |
| Gene Type | Protein-coding |
| Chromosomal Location | 10p13 |
| NCBI Gene ID | 11165 ncbi.nlm.nih.gov/gene/11165 |
| Ensembl ID | ENSG00000165609 |
| UniProt ID | Q9UKK9 |
| OMIM ID | 609230 |
| HGNC ID | 8052 |
| Aliases | YSA1H, hYSA1, NUDIX5, MGC117188 |
Description
NUDT5 (nudix hydrolase 5) encodes a member of the Nudix hydrolase family. The protein hydrolyzes ADP-ribose and related nucleotides, and under specific conditions can also synthesize ATP from ADP-ribose in the nucleus. It plays roles in cellular energy homeostasis, chromatin remodeling, and DNA damage response. NUDT5 is implicated in breast cancer and other malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | NUDT5 nuclear ATP synthesis supports hormone-dependent gene expression and proliferation; overexpression correlates with poor prognosis. | PMID: 27309819, COSMIC |
| Prostate Cancer | Altered NUDT5 expression may influence androgen receptor signaling. | COSMIC, PMID: 31073040 |
| Colorectal Cancer | NUDT5 upregulation linked to increased cell proliferation and invasion. | COSMIC, PMID: 31570863 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 18.2 nTPM | Medium |
| Prostate | 12.5 nTPM | Medium |
| Colon | 10.8 nTPM | Medium |
| Liver | 6.3 nTPM | Low |
| Brain | 4.1 nTPM | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 22.5 nTPM | High expression; nuclear ATP synthesis active |
| LNCaP (prostate cancer) | 15.0 nTPM | Moderate expression |
| HEK293 (embryonic kidney) | 8.7 nTPM | Basal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% (gnomAD) | Unknown functional effect |
| c.494G>A (p.Arg165His) | Missense | <0.01% (gnomAD) | Unknown functional effect |
| c.1A>G (p.Met1Val) | Start loss | <0.01% (gnomAD) | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss variant p.Met1Val likely abolishes translation initiation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • ADP-ribose diphosphatase activity | • ATP synthesis from ADP-ribose |
| • nucleus | • cytoplasm |
| • chromatin remodeling | • DNA damage response |
Pathways
• ADP-ribose metabolism
• Nuclear ATP synthesis
• NAD+ metabolism
Protein Summary
NUDT5 is a 27 kDa protein belonging to the Nudix hydrolase superfamily. It catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-phosphate, and under conditions of high ADP-ribose can also synthesize ATP in the nucleus. This bifunctional activity links NAD+ metabolism to nuclear energy supply, influencing gene expression and cell proliferation. The protein is predominantly nuclear but also found in the cytoplasm.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUDT5 Knockout HEK293 Cell Line | EDJ-KQ3364 | Human | 11164 | Details Get a Quote |
| NUDT5 Knockout A-549 Cell Line | EDJ-KQ25030 | Human | 11164 | Details Get a Quote |
| NUDT5 Knockout HCT 116 Cell Line | EDJ-KQ25031 | Human | 11164 | Details Get a Quote |
| NUDT5 Knockout HeLa Cell Line | EDJ-KQ25032 | Human | 11164 | Details Get a Quote |
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