Involved in mitochondrial respirasome assembly and multi-pass transmembrane protein insertion into ER membrane. Located in mitochondrion. Part of multi-pass translocon complex. Implicated in craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2. [provided by Alliance of Genome Resources, Jul 2025]
Transcription factors with Perturb-seq knockdown data for RAB5IF. 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 = RAB5IF 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 RAB5IF, 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 |
|---|---|---|---|---|
| chr20:36,306,218–36,306,746 | 299.4 kb | Distal (>10kb) Multiome | 148 | |
| chr20:36,399,522–36,399,982 | 206.0 kb | Distal (>10kb) Multiome | 345 | |
| chr20:36,435,969–36,436,607 | 169.4 kb | Distal (>10kb) Multiome | 268 | |
| chr20:36,460,578–36,462,746 | 144.5 kb | Distal (>10kb) Multiome | 955 | |
| chr20:36,540,956–36,541,869 | 64.4 kb | Distal (>10kb) Multiome | 305 | |
| chr20:36,571,701–36,572,151 | 34.0 kb | Distal (>10kb) Multiome | 361 | |
| chr20:36,572,535–36,575,795 | 32.3 kb | Distal (>10kb) Multiome | 1083 | |
| chr20:36,585,521–36,586,119 | 20.0 kb | Distal (>10kb) Multiome | 314 | |
| chr20:36,604,973–36,606,237 | 134 bp | At TSS Multiome | 1049 | |
| chr20:36,676,551–36,678,157 | 71.5 kb | Distal (>10kb) Multiome | 370 | |
| chr20:36,745,462–36,746,528 | 140.3 kb | Distal (>10kb) Multiome | 739 | |
| chr20:36,773,223–36,774,655 | 168.2 kb | Distal (>10kb) Multiome | 971 | |
| chr20:36,821,902–36,822,404 | 216.4 kb | Distal (>10kb) Multiome | 177 | |
| chr20:36,835,484–36,836,113 | 230.0 kb | Distal (>10kb) Multiome | 446 | |
| chr20:36,846,853–36,847,425 | 241.3 kb | Distal (>10kb) Multiome | 228 | |
| chr20:36,863,126–36,864,425 | 258.1 kb | Distal (>10kb) Multiome | 833 | |
| chr20:36,886,953–36,887,714 | 281.5 kb | Distal (>10kb) Multiome | 586 |
Genomic view of the RAB5IF 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.