The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regulate mitochondrial stability and energy output. This protein also sequesters cytochrome c. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. [provided by RefSeq, Aug 2017]
Transcription factors with Perturb-seq knockdown data for OPA1. 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 = OPA1 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 OPA1, 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 |
|---|---|---|---|---|
| chr3:192,788,635–192,789,830 | 803.8 kb | Distal (>10kb) Multiome HiCAR | 148 | |
| chr3:193,592,681–193,593,759 | 6 bp | At TSS Multiome | 1031 | |
| chr3:193,596,619–193,597,490 | 4.0 kb | Proximal (<10kb) Multiome | 101 | |
| chr3:193,598,286–193,598,508 | 5.1 kb | Proximal (<10kb) | 52 | |
| chr3:193,745,018–193,745,738 | 152.3 kb | Distal (>10kb) Multiome | 401 | |
| chr3:193,775,262–193,776,121 | 182.7 kb | Distal (>10kb) Multiome | 253 | |
| chr3:193,788,186–193,788,719 | 195.2 kb | Distal (>10kb) Multiome | 340 | |
| chr3:193,812,265–193,813,797 | 220.1 kb | Distal (>10kb) Multiome | 367 | |
| chr3:193,816,705–193,817,416 | 223.8 kb | Distal (>10kb) Multiome | 333 | |
| chr3:193,851,297–193,851,877 | 258.4 kb | Distal (>10kb) Multiome | 162 | |
| chr3:193,879,180–193,880,115 | 286.7 kb | Distal (>10kb) Multiome | 202 |
Genomic view of the OPA1 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.