The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for ECHS1. 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 = ECHS1 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 ECHS1, 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 |
|---|---|---|---|---|
| chr10:133,087,734–133,088,838 | 285.4 kb | Distal (>10kb) Multiome | 273 | |
| chr10:133,143,227–133,144,444 | 229.3 kb | Distal (>10kb) Multiome | 346 | |
| chr10:133,159,602–133,160,521 | 213.2 kb | Distal (>10kb) Multiome | 198 | |
| chr10:133,229,278–133,231,486 | 143.1 kb | Distal (>10kb) Multiome | 253 | |
| chr10:133,231,897–133,232,673 | 141.0 kb | Distal (>10kb) Multiome | 75 | |
| chr10:133,235,225–133,235,826 | 137.7 kb | Distal (>10kb) Multiome | 122 | |
| chr10:133,236,052–133,238,686 | 135.6 kb | Distal (>10kb) Multiome | 361 | |
| chr10:133,245,223–133,246,111 | 127.5 kb | Distal (>10kb) Multiome | 265 | |
| chr10:133,247,041–133,247,539 | 126.1 kb | Distal (>10kb) Multiome | 168 | |
| chr10:133,257,420–133,258,249 | 115.6 kb | Distal (>10kb) Multiome | 384 | |
| chr10:133,261,265–133,262,426 | 111.4 kb | Distal (>10kb) Multiome | 421 | |
| chr10:133,276,420–133,277,460 | 96.4 kb | Distal (>10kb) Multiome | 216 | |
| chr10:133,307,807–133,309,623 | 64.2 kb | Distal (>10kb) Multiome | 785 | |
| chr10:133,318,523–133,319,017 | 54.5 kb | Distal (>10kb) Multiome | 567 | |
| chr10:133,324,203–133,325,065 | 48.9 kb | Distal (>10kb) Multiome | 243 | |
| chr10:133,329,452–133,330,224 | 43.5 kb | Distal (>10kb) Multiome | 471 | |
| chr10:133,357,077–133,358,582 | 15.5 kb | Distal (>10kb) Multiome | 649 | |
| chr10:133,373,095–133,373,842 | 107 bp | At TSS Multiome | 589 | |
| chr10:133,377,993–133,380,099 | 5.9 kb | Proximal (<10kb) Multiome | 714 | |
| chr10:133,393,908–133,394,705 | 20.8 kb | Distal (>10kb) Multiome | 959 |
Genomic view of the ECHS1 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.