The protein encoded by this gene is a nuclear-encoded mitochondrial protein necessary for the maintenance of mitochondrial genome synthesis. The encoded protein is a RecB-type exonuclease and primarily cleaves single-stranded DNA. Defects in this gene have been associated with mitochondrial DNA depletion syndrome-11. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
Transcription factors with Perturb-seq knockdown data for MGME1. 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 = MGME1 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 MGME1, 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 |
|---|---|---|---|---|
| chr20:17,679,860–17,683,144 | 286.5 kb | Distal (>10kb) Multiome | 1108 | |
| chr20:17,752,432–17,753,052 | 216.3 kb | Distal (>10kb) Multiome | 60 | |
| chr20:17,938,730–17,940,231 | 29.8 kb | Distal (>10kb) Multiome | 678 | |
| chr20:17,968,085–17,969,639 | 140 bp | At TSS Multiome | 1144 | |
| chr20:17,969,901–17,970,306 | 884 bp | At TSS | 306 | |
| chr20:18,032,971–18,033,755 | 64.2 kb | Distal (>10kb) Multiome | 212 | |
| chr20:18,057,257–18,058,052 | 88.9 kb | Distal (>10kb) Multiome | 323 | |
| chr20:18,058,764–18,059,467 | 90.2 kb | Distal (>10kb) Multiome | 393 | |
| chr20:18,101,249–18,101,961 | 132.6 kb | Distal (>10kb) Multiome | 74 | |
| chr20:18,103,190–18,103,994 | 134.7 kb | Distal (>10kb) Multiome | 149 | |
| chr20:18,137,127–18,138,367 | 168.8 kb | Distal (>10kb) Multiome | 1046 |
Genomic view of the MGME1 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.