This gene encodes a member of the metallo beta-lactamase family of iron-containing proteins involved in the mitochondrial sulfide oxidation pathway. The encoded protein catalyzes the oxidation of a persulfide substrate to sulfite. Certain mutations in this gene cause ethylmalonic encephalopathy, an infantile metabolic disorder affecting the brain, gastrointestinal tract and peripheral vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
Transcription factors with Perturb-seq knockdown data for ETHE1. 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 = ETHE1 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 ETHE1, 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 |
|---|---|---|---|---|
| chr19:42,401,221–42,402,278 | 1125.5 kb | Distal (>10kb) Multiome HiCAR | 475 | |
| chr19:43,463,046–43,464,465 | 63.7 kb | Distal (>10kb) Multiome | 645 | |
| chr19:43,474,993–43,475,696 | 51.9 kb | Distal (>10kb) Multiome | 506 | |
| chr19:43,503,542–43,505,032 | 23.0 kb | Distal (>10kb) Multiome | 760 | |
| chr19:43,519,573–43,519,755 | 7.5 kb | Proximal (<10kb) | 310 | |
| chr19:43,526,489–43,527,639 | 29 bp | At TSS Multiome | 712 | |
| chr19:43,532,595–43,534,553 | 6.9 kb | Proximal (<10kb) Multiome | 698 | |
| chr19:43,535,538–43,535,964 | 8.3 kb | Proximal (<10kb) | 131 | |
| chr19:43,575,342–43,576,244 | 48.4 kb | Distal (>10kb) Multiome | 562 | |
| chr19:43,580,271–43,581,020 | 53.4 kb | Distal (>10kb) Multiome | 151 | |
| chr19:43,594,710–43,596,874 | 69.1 kb | Distal (>10kb) Multiome | 998 | |
| chr19:43,618,905–43,620,391 | 92.5 kb | Distal (>10kb) Multiome | 1071 | |
| chr19:43,639,490–43,640,467 | 112.6 kb | Distal (>10kb) Multiome | 545 | |
| chr19:43,667,574–43,669,430 | 141.4 kb | Distal (>10kb) Multiome | 787 | |
| chr19:43,671,889–43,672,687 | 145.0 kb | Distal (>10kb) Multiome | 162 | |
| chr19:43,673,253–43,674,111 | 146.6 kb | Distal (>10kb) Multiome | 55 | |
| chr19:43,754,239–43,755,900 | 227.5 kb | Distal (>10kb) Multiome | 899 | |
| chr19:43,773,845–43,774,908 | 247.3 kb | Distal (>10kb) Multiome | 645 | |
| chr19:43,798,557–43,799,046 | 271.6 kb | Distal (>10kb) Multiome | 403 | |
| chr19:43,827,133–43,827,702 | 300.1 kb | Distal (>10kb) Multiome | 593 |
Genomic view of the ETHE1 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.