NUDT1
Summary: Misincorporation of oxidized nucleoside triphosphates into DNA/RNA during replication and transcription can cause mutations that may result in carcinogenesis or neurodegeneration. The protein encoded by this gene is an enzyme that hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP, 8-oxo-dATP, 2-hydroxy-dATP, and 2-hydroxy rATP, to monophosphates, thereby preventing misincorporation. The encoded protein is localized mainly in the cytoplasm, with some in the mitochondria, suggesting that it is involved in the sanitization of nucleotide pools both for nuclear and mitochondrial genomes. Several alternatively spliced transcript variants, some of which encode distinct isoforms, have been identified. Additional variants have been observed, but their full-length natures have not been determined. A single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described. [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:600312 Ensembl IDEnsembl:ENSG00000106268 HGNC IDHGNC:HGNC:8048 PHARMGKB IDPA31830 Map Location7p22.3 | |||||
Gene Categories:
DNA REPAIRGO terms in NUDT1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IDA | GO:0006195 | purine nucleotide catabolic process |
| BP | IDA | GO:0006203 | dGTP catabolic process |
| BP | IC | GO:0006281 | DNA repair |
| BP | TAS | GO:0006979 | response to oxidative stress |
| BP | IEA | GO:0007568 | aging |
| BP | IEA | GO:0008584 | male gonad development |
Gene expression in normal tissue: NUDT1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NUDT1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| humancyc | PWY-6502 | oxidized GTP and dGTP detoxification |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-15869 | Metabolism of nucleotides |
| reactome | R-HSA-2393930 | Phosphate bond hydrolysis by NUDT proteins |
| reactome | R-HSA-74259 | Purine catabolism |
| reactome | R-HSA-8956319 | Nucleobase catabolism |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NUDT1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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