This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for SIL1. 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 = SIL1 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 SIL1, 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 |
|---|---|---|---|---|
| chr5:138,962,635–138,963,294 | 235.4 kb | Distal (>10kb) Multiome | 35 | |
| chr5:138,998,417–138,998,944 | 199.6 kb | Distal (>10kb) Multiome | 46 | |
| chr5:139,197,672–139,198,627 | 66 bp | At TSS Multiome | 851 | |
| chr5:139,273,424–139,274,448 | 75.7 kb | Distal (>10kb) Multiome | 843 | |
| chr5:139,283,068–139,284,092 | 85.4 kb | Distal (>10kb) Multiome | 194 | |
| chr5:139,293,312–139,294,807 | 95.4 kb | Distal (>10kb) Multiome | 994 | |
| chr5:139,341,351–139,342,686 | 143.5 kb | Distal (>10kb) Multiome | 1002 | |
| chr5:139,378,115–139,378,885 | 180.1 kb | Distal (>10kb) Multiome | 122 | |
| chr5:139,391,978–139,393,556 | 194.4 kb | Distal (>10kb) Multiome | 424 | |
| chr5:139,396,045–139,397,275 | 198.6 kb | Distal (>10kb) Multiome | 134 | |
| chr5:139,403,383–139,404,694 | 205.7 kb | Distal (>10kb) Multiome | 772 | |
| chr5:139,438,861–139,439,913 | 241.1 kb | Distal (>10kb) Multiome | 726 |
Genomic view of the SIL1 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.