This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Transcription factors with Perturb-seq knockdown data for POGLUT1. 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 = POGLUT1 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 POGLUT1, 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 |
|---|---|---|---|---|
| chr3:119,173,189–119,173,912 | 295.4 kb | Distal (>10kb) Multiome | 150 | |
| chr3:119,206,295–119,207,798 | 262.0 kb | Distal (>10kb) Multiome | 256 | |
| chr3:119,210,998–119,211,738 | 257.5 kb | Distal (>10kb) Multiome | 234 | |
| chr3:119,240,068–119,241,279 | 228.1 kb | Distal (>10kb) Multiome | 820 | |
| chr3:119,241,393–119,241,941 | 227.2 kb | Distal (>10kb) Multiome | 393 | |
| chr3:119,293,740–119,295,412 | 174.9 kb | Distal (>10kb) Multiome | 540 | |
| chr3:119,322,394–119,324,118 | 146.0 kb | Distal (>10kb) Multiome | 824 | |
| chr3:119,349,421–119,349,961 | 119.4 kb | Distal (>10kb) Multiome | 181 | |
| chr3:119,350,134–119,350,644 | 118.7 kb | Distal (>10kb) Multiome | 175 | |
| chr3:119,360,851–119,361,645 | 107.7 kb | Distal (>10kb) Multiome | 107 | |
| chr3:119,417,868–119,418,544 | 50.7 kb | Distal (>10kb) Multiome | 156 | |
| chr3:119,463,124–119,464,243 | 5.3 kb | Proximal (<10kb) Multiome | 902 | |
| chr3:119,468,550–119,469,486 | 2 bp | At TSS Multiome | 832 | |
| chr3:119,497,916–119,499,024 | 29.5 kb | Distal (>10kb) Multiome | 886 | |
| chr3:119,579,336–119,580,732 | 110.9 kb | Distal (>10kb) Multiome | 519 | |
| chr3:119,676,820–119,677,853 | 208.4 kb | Distal (>10kb) Multiome | 778 | |
| chr3:119,702,500–119,703,521 | 234.0 kb | Distal (>10kb) Multiome | 399 |
Genomic view of the POGLUT1 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.