The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016]
Transcription factors with Perturb-seq knockdown data for ERLIN1. 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 = ERLIN1 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 ERLIN1, 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 |
|---|---|---|---|---|
| chr10:99,913,671–99,914,615 | 272.0 kb | Distal (>10kb) Multiome | 256 | |
| chr10:100,009,381–100,010,564 | 176.1 kb | Distal (>10kb) Multiome | 647 | |
| chr10:100,185,381–100,186,650 | 25 bp | At TSS Multiome | 913 | |
| chr10:100,228,957–100,229,948 | 43.5 kb | Distal (>10kb) Multiome | 759 | |
| chr10:100,267,386–100,267,986 | 81.7 kb | Distal (>10kb) Multiome | 715 | |
| chr10:100,286,018–100,287,021 | 100.6 kb | Distal (>10kb) Multiome | 849 | |
| chr10:100,346,401–100,347,640 | 160.8 kb | Distal (>10kb) Multiome | 919 | |
| chr10:100,359,067–100,359,724 | 173.2 kb | Distal (>10kb) Multiome | 425 | |
| chr10:100,372,854–100,374,386 | 187.5 kb | Distal (>10kb) Multiome | 964 | |
| chr10:100,481,576–100,482,049 | 295.6 kb | Distal (>10kb) Multiome | 298 | |
| chr10:100,482,268–100,483,078 | 296.8 kb | Distal (>10kb) Multiome | 497 | |
| chr10:100,485,778–100,486,586 | 300.1 kb | Distal (>10kb) Multiome | 161 |
Genomic view of the ERLIN1 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.