The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Transcription factors with Perturb-seq knockdown data for RETREG1. 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 = RETREG1 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 RETREG1, 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 |
|---|---|---|---|---|
| chr5:16,378,323–16,379,199 | 238.0 kb | Distal (>10kb) Multiome | 110 | |
| chr5:16,419,918–16,420,591 | 196.7 kb | Distal (>10kb) Multiome | 53 | |
| chr5:16,465,184–16,466,419 | 151.1 kb | Distal (>10kb) Multiome | 953 | |
| chr5:16,575,212–16,575,703 | 41.6 kb | Distal (>10kb) Multiome | 124 | |
| chr5:16,616,186–16,617,558 | 86 bp | At TSS Multiome | 428 | |
| chr5:16,617,603–16,618,016 | 635 bp | At TSS | 85 | |
| chr5:16,620,166–16,620,438 | 3.2 kb | Proximal (<10kb) | 1 | |
| chr5:16,737,662–16,738,837 | 121.4 kb | Distal (>10kb) Multiome | 275 | |
| chr5:16,900,382–16,901,591 | 283.7 kb | Distal (>10kb) Multiome | 195 |
Genomic view of the RETREG1 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.