NUDT1
Nudix Hydrolase 1 (8-oxo-dGTPase)
Gene Information Card
| Symbol | NUDT1 |
|---|---|
| Full Name | Nudix Hydrolase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p22.3 |
| NCBI Gene ID | 4520 ncbi.nlm.nih.gov/gene/4520 |
| Ensembl ID | ENSG00000106268 |
| UniProt ID | P36639 |
| OMIM ID | 600312 |
| HGNC ID | 8020 |
| Aliases | MTH1, NUDT1A, NUDT1B, NUDT1C, NUDT1D, NUDT1E, NUDT1F |
Description
NUDT1 (nudix hydrolase 1) encodes the MTH1 protein, an 8-oxo-dGTPase that hydrolyzes oxidized purine nucleoside triphosphates (e.g., 8-oxo-dGTP) to prevent their incorporation into DNA and RNA, thereby protecting against oxidative damage and mutagenesis. The gene produces multiple transcript variants through alternative splicing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression of NUDT1 in tumors removes oxidized nucleotides, promoting cell survival under oxidative stress and contributing to chemoresistance. | PMID: 25944712, COSMIC |
| Hereditary cancer predisposition | Germline variants in NUDT1 may increase susceptibility to certain cancers, though evidence is limited. | ClinVar, PMID: 25944712 |
| Neurodegenerative disorders | Impaired NUDT1 function may lead to accumulation of oxidized nucleotides in neurons, contributing to oxidative damage in conditions like Parkinson's disease. | PMID: 25944712 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 10.3 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 8.1 | Low |
| Lung | 7.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| A549 | 13.8 | Lung cancer cell line |
| HEK293 | 11.5 | Embryonic kidney cell line |
| MCF7 | 10.9 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.83G>A (p.Gly28Asp) | Missense | <0.01% | Reduced enzyme activity; associated with cancer risk |
| c.142C>T (p.Arg48Trp) | Missense | <0.01% | Altered substrate specificity |
| c.292G>A (p.Gly98Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Gly28Asp) reduce 8-oxo-dGTPase activity, potentially increasing oxidative DNA damage.
Gain of Function (GOF)
Not well documented; overexpression in tumors is considered a gain-of-function in the context of cancer cell survival.
Dominant Negative (DN)
No dominant negative effects reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Oxidative stress response
• Purine metabolism
• Nucleotide excision repair (indirect)
Protein Summary
The NUDT1 protein (MTH1) is a 18-22 kDa nudix hydrolase that catalyzes the hydrolysis of oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP, to monophosphates, preventing their incorporation into DNA/RNA. It is expressed in multiple tissues and is upregulated in various cancers, where it supports tumor cell survival under oxidative stress. The protein has a conserved nudix box motif (GX5EX7REUXEEXGU) and requires magnesium for activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUDT17 Knockout HEK293 Cell Line | EDJ-KQ4355 | Human | 200035 | Details Get a Quote |
| NUDT1 Knockout HEK293 Cell Line | EDJ-KQ5257 | Human | 4521 | Details Get a Quote |
| NUDT13 Knockout HEK293 Cell Line | EDJ-KQ8322 | Human | 25961 | Details Get a Quote |
| NUDT16 Knockout HEK293 Cell Line | EDJ-KQ9276 | Human | 131870 | Details Get a Quote |
| NUDT12 Knockout HEK293 Cell Line | EDJ-KQ9867 | Human | 83594 | Details Get a Quote |
| NUDT14 Knockout HEK293 Cell Line | EDJ-KQ11823 | Human | 256281 | Details Get a Quote |
| NUDT11 Knockout HEK293 Cell Line | EDJ-KQ13758 | Human | 55190 | Details Get a Quote |
| NUDT19 Knockout HEK293 Cell Line | EDC90739 | Human | 390916 | Details Get a Quote |
| NUDT10 Knockout HEK293 Cell Line | EDJ-KQ14514 | Human | 170685 | Details Get a Quote |
| NUDT15 Knockout HEK293 Cell Line | EDJ-KQ14516 | Human | 55270 | Details Get a Quote |
| NUDT18 Knockout HEK293 Cell Line | EDJ-KQ14517 | Human | 79873 | Details Get a Quote |
| NUDT1 Knockout A-549 Cell Line | EDJ-KQ27059 | Human | 4521 | Details Get a Quote |
| NUDT11 Knockout A-549 Cell Line | EDJ-KQ44789 | Human | 55190 | Details Get a Quote |
| NUDT15 Knockout A-549 Cell Line | EDJ-KQ44790 | Human | 55270 | Details Get a Quote |
| NUDT15 Knockout HCT 116 Cell Line | EDJ-KQ44791 | Human | 55270 | Details Get a Quote |
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