This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010]
Transcription factors with Perturb-seq knockdown data for RDH5. 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 = RDH5 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 RDH5, 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 |
|---|---|---|---|---|
| chr12:55,630,484–55,631,684 | 90.1 kb | Distal (>10kb) Multiome | 41 | |
| chr12:55,645,990–55,646,787 | 74.8 kb | Distal (>10kb) Multiome | 520 | |
| chr12:55,681,171–55,682,136 | 39.5 kb | Distal (>10kb) Multiome | 647 | |
| chr12:55,707,276–55,708,500 | 13.2 kb | Distal (>10kb) Multiome HiCAR | 372 | |
| chr12:55,715,733–55,716,775 | 4.9 kb | Proximal (<10kb) Multiome HiCAR | 929 | |
| chr12:55,721,046–55,721,445 | at TSS | At TSS | 305 | |
| chr12:55,724,713–55,724,888 | 3.5 kb | Proximal (<10kb) | 167 | |
| chr12:55,726,828–55,727,197 | 5.6 kb | Proximal (<10kb) | 69 | |
| chr12:55,727,952–55,730,453 | 8.5 kb | Proximal (<10kb) Multiome | 895 | |
| chr12:55,736,969–55,737,781 | 16.1 kb | Distal (>10kb) Multiome | 496 | |
| chr12:55,737,830–55,739,085 | 17.4 kb | Distal (>10kb) Multiome | 475 | |
| chr12:55,742,540–55,744,252 | 22.0 kb | Distal (>10kb) Multiome | 631 | |
| chr12:55,745,091–55,746,361 | 24.6 kb | Distal (>10kb) Multiome | 299 | |
| chr12:55,817,254–55,818,558 | 96.7 kb | Distal (>10kb) Multiome | 749 | |
| chr12:55,829,008–55,831,505 | 108.5 kb | Distal (>10kb) Multiome | 921 | |
| chr12:55,926,651–55,928,471 | 205.8 kb | Distal (>10kb) Multiome | 993 | |
| chr12:55,931,904–55,932,439 | 210.9 kb | Distal (>10kb) Multiome | 279 | |
| chr12:55,940,073–55,940,746 | 219.2 kb | Distal (>10kb) Multiome | 478 | |
| chr12:55,966,006–55,967,470 | 245.6 kb | Distal (>10kb) Multiome | 615 | |
| chr12:55,973,347–55,974,716 | 252.7 kb | Distal (>10kb) Multiome | 966 | |
| chr12:55,996,814–55,997,861 | 276.0 kb | Distal (>10kb) Multiome | 680 | |
| chr12:56,006,888–56,008,461 | 286.4 kb | Distal (>10kb) Multiome | 745 | |
| chr12:56,020,644–56,021,511 | 299.8 kb | Distal (>10kb) Multiome | 364 |
Genomic view of the RDH5 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.