This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the mitochondrial inner membrane and matrix. This protein may also play a role in maintaining the membrane permeability barrier, and knockdown of this gene in human cells results in the release of cytochrome c and apoptosis. [provided by RefSeq, Jul 2016]
Transcription factors with Perturb-seq knockdown data for TIMM50. 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 = TIMM50 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 TIMM50, 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 |
|---|---|---|---|---|
| chr19:39,307,021–39,308,955 | 173.3 kb | Distal (>10kb) Multiome | 358 | |
| chr19:39,320,514–39,321,175 | 160.0 kb | Distal (>10kb) Multiome | 364 | |
| chr19:39,341,491–39,342,890 | 138.6 kb | Distal (>10kb) Multiome | 934 | |
| chr19:39,390,544–39,391,970 | 89.7 kb | Distal (>10kb) Multiome | 1003 | |
| chr19:39,397,520–39,398,126 | 83.0 kb | Distal (>10kb) Multiome | 711 | |
| chr19:39,402,336–39,404,125 | 76.9 kb | Distal (>10kb) Multiome | 826 | |
| chr19:39,406,270–39,408,010 | 74.1 kb | Distal (>10kb) Multiome | 804 | |
| chr19:39,409,417–39,410,433 | 71.1 kb | Distal (>10kb) Multiome | 884 | |
| chr19:39,411,293–39,414,170 | 68.4 kb | Distal (>10kb) Multiome | 1109 | |
| chr19:39,428,269–39,428,993 | 52.2 kb | Distal (>10kb) Multiome | 479 | |
| chr19:39,435,526–39,436,258 | 44.8 kb | Distal (>10kb) Multiome | 930 | |
| chr19:39,445,191–39,446,019 | 35.3 kb | Distal (>10kb) Multiome | 927 | |
| chr19:39,474,213–39,474,427 | 6.4 kb | Proximal (<10kb) | 237 | |
| chr19:39,480,241–39,481,284 | 78 bp | At TSS Multiome | 880 | |
| chr19:39,497,736–39,498,430 | 17.2 kb | Distal (>10kb) Multiome | 558 | |
| chr19:39,502,647–39,503,265 | 22.1 kb | Distal (>10kb) Multiome | 835 | |
| chr19:39,506,926–39,507,691 | 26.4 kb | Distal (>10kb) Multiome | 748 | |
| chr19:39,514,761–39,515,964 | 34.4 kb | Distal (>10kb) Multiome | 370 | |
| chr19:39,532,304–39,533,247 | 52.0 kb | Distal (>10kb) Multiome | 760 | |
| chr19:39,539,469–39,540,414 | 59.3 kb | Distal (>10kb) Multiome | 772 |
Genomic view of the TIMM50 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.