This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Transcription factors with Perturb-seq knockdown data for SORT1. 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 = SORT1 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 SORT1, 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 |
|---|---|---|---|---|
| chr1:109,099,660–109,100,771 | 297.8 kb | Distal (>10kb) Multiome | 1149 | |
| chr1:109,112,499–109,113,189 | 285.1 kb | Distal (>10kb) Multiome | 536 | |
| chr1:109,113,744–109,114,449 | 283.7 kb | Distal (>10kb) Multiome | 236 | |
| chr1:109,213,499–109,214,619 | 184.0 kb | Distal (>10kb) Multiome | 770 | |
| chr1:109,229,475–109,230,215 | 168.0 kb | Distal (>10kb) Multiome | 221 | |
| chr1:109,240,604–109,241,116 | 156.9 kb | Distal (>10kb) Multiome | 391 | |
| chr1:109,249,055–109,250,364 | 148.4 kb | Distal (>10kb) Multiome | 527 | |
| chr1:109,263,250–109,264,042 | 134.2 kb | Distal (>10kb) Multiome HiCAR | 767 | |
| chr1:109,282,693–109,283,858 | 114.7 kb | Distal (>10kb) Multiome | 850 | |
| chr1:109,306,995–109,308,024 | 90.3 kb | Distal (>10kb) Multiome | 425 | |
| chr1:109,397,369–109,398,671 | 139 bp | At TSS Multiome | 654 | |
| chr1:109,425,842–109,427,054 | 28.6 kb | Distal (>10kb) Multiome | 922 | |
| chr1:109,466,294–109,467,385 | 68.7 kb | Distal (>10kb) Multiome | 452 | |
| chr1:109,483,147–109,484,806 | 86.0 kb | Distal (>10kb) Multiome | 1031 | |
| chr1:109,493,695–109,494,597 | 96.2 kb | Distal (>10kb) Multiome | 842 | |
| chr1:109,498,180–109,498,608 | 100.5 kb | Distal (>10kb) Multiome | 178 | |
| chr1:109,509,196–109,510,011 | 111.8 kb | Distal (>10kb) Multiome | 448 | |
| chr1:109,532,157–109,533,159 | 134.8 kb | Distal (>10kb) Multiome | 517 | |
| chr1:109,548,385–109,549,096 | 150.7 kb | Distal (>10kb) Multiome | 855 | |
| chr1:109,619,434–109,621,357 | 223.1 kb | Distal (>10kb) Multiome | 814 | |
| chr1:109,643,342–109,643,856 | 245.6 kb | Distal (>10kb) Multiome | 470 | |
| chr1:109,655,698–109,656,566 | 258.2 kb | Distal (>10kb) Multiome | 707 | |
| chr1:109,667,812–109,668,362 | 270.1 kb | Distal (>10kb) Multiome | 287 |
Genomic view of the SORT1 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.