The protein encoded by this gene is a member of the derlin family. Members of this family participate in the ER-associated degradation response and retrotranslocate misfolded or unfolded proteins from the ER lumen to the cytosol for proteasomal degradation. This protein recognizes substrate in the ER and works in a complex to retrotranslocate it across the ER membrane into the cytosol. This protein may select cystic fibrosis transmembrane conductance regulator protein (CFTR) for degradation as well as unfolded proteins in Alzheimer's disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
Transcription factors with Perturb-seq knockdown data for DERL1. 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 = DERL1 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 DERL1, 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 |
|---|---|---|---|---|
| chr8:122,686,468–122,687,541 | 355.3 kb | Distal (>10kb) Multiome HiCAR | 263 | |
| chr8:122,780,039–122,780,999 | 261.9 kb | Distal (>10kb) Multiome | 860 | |
| chr8:122,781,087–122,783,557 | 259.2 kb | Distal (>10kb) Multiome | 793 | |
| chr8:122,837,253–122,838,328 | 204.3 kb | Distal (>10kb) Multiome | 291 | |
| chr8:123,041,536–123,042,890 | 21 bp | At TSS Multiome | 925 | |
| chr8:123,065,582–123,066,386 | 23.8 kb | Distal (>10kb) Multiome | 354 | |
| chr8:123,072,367–123,073,561 | 30.3 kb | Distal (>10kb) Multiome | 858 | |
| chr8:123,156,604–123,157,953 | 115.0 kb | Distal (>10kb) Multiome | 1083 | |
| chr8:123,160,441–123,161,547 | 118.4 kb | Distal (>10kb) Multiome | 590 | |
| chr8:123,205,121–123,205,789 | 163.2 kb | Distal (>10kb) Multiome | 298 | |
| chr8:123,207,081–123,207,716 | 165.1 kb | Distal (>10kb) Multiome | 96 | |
| chr8:123,235,684–123,236,295 | 193.7 kb | Distal (>10kb) Multiome | 110 | |
| chr8:123,240,791–123,241,581 | 199.1 kb | Distal (>10kb) Multiome | 784 | |
| chr8:123,273,286–123,275,625 | 232.4 kb | Distal (>10kb) Multiome | 970 |
Genomic view of the DERL1 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.