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 rare single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described. [provided by RefSeq, Dec 2018]
Transcription factors with Perturb-seq knockdown data for NUDT1. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = NUDT1 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of NUDT1, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr7:321,971–322,829 | 1919.9 kb | Distal (>10kb) Multiome HiCAR | 351 | |
| chr7:2,232,261–2,233,424 | 9.3 kb | Proximal (<10kb) Multiome | 809 | |
| chr7:2,241,746–2,242,506 | 56 bp | At TSS Multiome | 794 | |
| chr7:2,247,239–2,247,437 | 5.0 kb | Proximal (<10kb) | 156 | |
| chr7:2,313,875–2,314,819 | 72.3 kb | Distal (>10kb) Multiome | 684 | |
| chr7:2,353,760–2,355,437 | 112.4 kb | Distal (>10kb) Multiome HiCAR | 1060 | |
| chr7:2,403,048–2,404,583 | 161.3 kb | Distal (>10kb) Multiome | 775 | |
| chr7:2,451,319–2,452,043 | 209.4 kb | Distal (>10kb) Multiome | 660 | |
| chr7:2,518,679–2,520,557 | 277.5 kb | Distal (>10kb) Multiome | 567 |
Genomic view of the NUDT1 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.