The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]
Transcription factors with Perturb-seq knockdown data for SERAC1. 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 = SERAC1 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 SERAC1, 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 |
|---|---|---|---|---|
| chr6:157,889,727–157,890,344 | 278.2 kb | Distal (>10kb) Multiome | 81 | |
| chr6:157,981,020–157,982,539 | 186.6 kb | Distal (>10kb) Multiome | 932 | |
| chr6:158,161,664–158,161,870 | 6.4 kb | Proximal (<10kb) | 45 | |
| chr6:158,161,979–158,162,102 | 6.2 kb | Proximal (<10kb) | 42 | |
| chr6:158,167,216–158,167,557 | 710 bp | At TSS | 100 | |
| chr6:158,167,710–158,168,897 | 44 bp | At TSS Multiome | 961 | |
| chr6:158,231,543–158,233,134 | 63.9 kb | Distal (>10kb) Multiome | 898 | |
| chr6:158,339,091–158,339,595 | 171.1 kb | Distal (>10kb) Multiome | 264 | |
| chr6:158,464,343–158,464,804 | 296.4 kb | Distal (>10kb) Multiome | 90 | |
| chr6:158,467,569–158,468,415 | 299.8 kb | Distal (>10kb) Multiome | 239 |
Genomic view of the SERAC1 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.