This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV subunits. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]
Transcription factors with Perturb-seq knockdown data for AFG1L. 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 = AFG1L 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 AFG1L, 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 |
|---|---|---|---|---|
| chr6:108,074,193–108,075,197 | 220.3 kb | Distal (>10kb) Multiome | 935 | |
| chr6:108,117,713–108,118,288 | 177.0 kb | Distal (>10kb) Multiome | 242 | |
| chr6:108,133,646–108,134,560 | 161.0 kb | Distal (>10kb) Multiome | 560 | |
| chr6:108,164,692–108,165,502 | 130.0 kb | Distal (>10kb) Multiome | 111 | |
| chr6:108,260,173–108,261,671 | 33.9 kb | Distal (>10kb) Multiome | 970 | |
| chr6:108,294,541–108,295,678 | 101 bp | At TSS Multiome | 880 | |
| chr6:108,557,184–108,561,557 | 265.8 kb | Distal (>10kb) Multiome | 1119 | |
| chr6:108,561,776–108,563,199 | 267.7 kb | Distal (>10kb) Multiome | 782 |
Genomic view of the AFG1L 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.