This gene encodes a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling, endocytosis and cytoskeletal changes. The encoded protein has been found in association with intersectin 1 and Src homology 3-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1 when intersectin 1 was isolated from clathrin-coated pits. The encoded protein has also been shown to interact with amphiphysin, a cytoplasmic protein at the surface of synaptic vesicles. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Transcription factors with Perturb-seq knockdown data for REPS1. 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 = REPS1 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 REPS1, 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 |
|---|---|---|---|---|
| chr6:138,691,712–138,693,955 | 294.9 kb | Distal (>10kb) Multiome | 807 | |
| chr6:138,772,879–138,774,086 | 214.7 kb | Distal (>10kb) Multiome | 833 | |
| chr6:138,795,674–138,796,576 | 192.2 kb | Distal (>10kb) Multiome | 181 | |
| chr6:138,817,772–138,818,464 | 170.2 kb | Distal (>10kb) Multiome | 321 | |
| chr6:138,890,955–138,892,013 | 96.8 kb | Distal (>10kb) Multiome | 99 | |
| chr6:138,907,149–138,907,731 | 1.0 kb | Proximal (<10kb) | 19 | |
| chr6:138,922,562–138,922,734 | 7.4 kb | Proximal (<10kb) | 2 | |
| chr6:138,987,166–138,988,932 | 2 bp | At TSS Multiome | 1012 | |
| chr6:139,010,370–139,011,354 | 22.7 kb | Distal (>10kb) Multiome | 168 | |
| chr6:139,028,353–139,030,017 | 40.5 kb | Distal (>10kb) Multiome | 798 | |
| chr6:139,134,756–139,136,229 | 146.8 kb | Distal (>10kb) Multiome | 714 | |
| chr6:139,219,088–139,219,883 | 231.2 kb | Distal (>10kb) Multiome | 525 |
Genomic view of the REPS1 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.