The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [provided by RefSeq, Jul 2015]
Transcription factors with Perturb-seq knockdown data for IBA57. 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 = IBA57 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 IBA57, 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 |
|---|---|---|---|---|
| chr1:227,946,348–227,948,809 | 219.1 kb | Distal (>10kb) Multiome | 645 | |
| chr1:228,004,351–228,004,883 | 161.2 kb | Distal (>10kb) Multiome | 154 | |
| chr1:228,058,680–228,061,126 | 106.0 kb | Distal (>10kb) Multiome | 377 | |
| chr1:228,081,634–228,083,952 | 83.2 kb | Distal (>10kb) Multiome | 942 | |
| chr1:228,085,140–228,085,832 | 80.3 kb | Distal (>10kb) Multiome | 276 | |
| chr1:228,101,882–228,103,743 | 63.6 kb | Distal (>10kb) Multiome | 929 | |
| chr1:228,108,924–228,110,105 | 56.4 kb | Distal (>10kb) Multiome | 958 | |
| chr1:228,130,684–228,131,457 | 34.7 kb | Distal (>10kb) Multiome | 488 | |
| chr1:228,139,579–228,140,870 | 25.7 kb | Distal (>10kb) Multiome | 931 | |
| chr1:228,162,701–228,162,919 | 2.9 kb | Proximal (<10kb) | 94 | |
| chr1:228,164,898–228,166,840 | 7 bp | At TSS Multiome | 1011 | |
| chr1:228,173,677–228,174,151 | 7.9 kb | Proximal (<10kb) | 239 | |
| chr1:228,174,477–228,174,893 | 8.8 kb | Proximal (<10kb) Multiome | 254 | |
| chr1:228,212,247–228,214,390 | 47.9 kb | Distal (>10kb) Multiome | 604 | |
| chr1:228,275,524–228,276,595 | 110.3 kb | Distal (>10kb) Multiome | 428 | |
| chr1:228,378,133–228,379,597 | 212.8 kb | Distal (>10kb) Multiome | 515 | |
| chr1:228,406,106–228,407,568 | 241.2 kb | Distal (>10kb) Multiome | 753 | |
| chr1:228,416,050–228,416,929 | 250.7 kb | Distal (>10kb) Multiome | 279 | |
| chr1:228,457,070–228,458,723 | 292.1 kb | Distal (>10kb) Multiome | 800 | |
| chr1:228,458,870–228,459,670 | 293.6 kb | Distal (>10kb) Multiome | 503 | |
| chr1:228,464,228–228,465,055 | 299.0 kb | Distal (>10kb) Multiome | 204 |
Genomic view of the IBA57 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.