This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response. Alternative splicing results in transcript variants encoding different protein isoforms that localize either to the cytosol or to the mitochondrion. Mutations in this gene have been found in patients with hereditary myopathy with lactic acidosis. A disease-associated mutation in an intron may activate a cryptic splice site, resulting in the production of a splice variant encoding a putatively non-functional protein. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Feb 2016]
Transcription factors with Perturb-seq knockdown data for ISCU. 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 = ISCU 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 ISCU, 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 |
|---|---|---|---|---|
| chr12:108,316,165–108,316,921 | 246.0 kb | Distal (>10kb) Multiome | 72 | |
| chr12:108,441,995–108,442,516 | 120.4 kb | Distal (>10kb) Multiome | 196 | |
| chr12:108,514,776–108,515,777 | 47.4 kb | Distal (>10kb) Multiome | 685 | |
| chr12:108,560,717–108,561,713 | 1.4 kb | Proximal (<10kb) Multiome | 703 | |
| chr12:108,561,872–108,563,300 | 42 bp | At TSS Multiome | 772 | |
| chr12:108,563,418–108,563,794 | 823 bp | At TSS | 423 | |
| chr12:108,691,447–108,691,929 | 129.1 kb | Distal (>10kb) Multiome | 745 | |
| chr12:108,730,199–108,732,667 | 169.3 kb | Distal (>10kb) Multiome | 993 | |
| chr12:108,802,154–108,802,651 | 239.7 kb | Distal (>10kb) Multiome | 135 | |
| chr12:108,856,753–108,858,260 | 295.1 kb | Distal (>10kb) Multiome | 698 | |
| chr12:109,093,224–109,093,868 | 530.9 kb | Distal (>10kb) Multiome HiCAR | 998 | |
| chr12:109,097,190–109,098,740 | 535.4 kb | Distal (>10kb) Multiome HiCAR | 758 |
Genomic view of the ISCU 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.