The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Transcription factors with Perturb-seq knockdown data for LRAT. 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 = LRAT 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 LRAT, 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 |
|---|---|---|---|---|
| chr4:154,489,612–154,492,716 | 135.0 kb | Distal (>10kb) Multiome | 547 | |
| chr4:154,548,823–154,550,849 | 76.5 kb | Distal (>10kb) Multiome HiCAR | 633 | |
| chr4:154,618,601–154,619,005 | 7.9 kb | Proximal (<10kb) | 232 | |
| chr4:154,622,564–154,622,933 | 4.0 kb | Proximal (<10kb) | 87 | |
| chr4:154,623,220–154,623,400 | 3.5 kb | Proximal (<10kb) | 8 | |
| chr4:154,623,506–154,623,795 | 3.1 kb | Proximal (<10kb) | 21 | |
| chr4:154,626,265–154,627,724 | 34 bp | At TSS Multiome | 532 | |
| chr4:154,720,234–154,721,419 | 94.0 kb | Distal (>10kb) Multiome | 149 | |
| chr4:154,738,549–154,738,787 | 5.2 kb | Proximal (<10kb) | 55 | |
| chr4:154,738,957–154,739,452 | 4.5 kb | Proximal (<10kb) | 80 | |
| chr4:154,740,341–154,741,031 | 3.0 kb | Proximal (<10kb) | 72 | |
| chr4:154,741,135–154,745,616 | 117.1 kb | Distal (>10kb) Multiome | 524 | |
| chr4:154,745,729–154,745,948 | 1.7 kb | Proximal (<10kb) | 20 | |
| chr4:155,376,323–155,377,313 | 749.9 kb | Distal (>10kb) Multiome HiCAR | 467 |
Genomic view of the LRAT 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.