The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein. This activity is required to generate signal sequence-derived human lymphocyte antigen-E epitopes that are recognized by the immune system, and to process hepatitis C virus core protein. The encoded protein is an integral membrane protein with sequence motifs characteristic of the presenilin-type aspartic proteases. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for HM13. 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 = HM13 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 HM13, 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 |
|---|---|---|---|---|
| chr20:31,514,040–31,515,233 | 9 bp | At TSS Multiome | 1014 | |
| chr20:31,517,445–31,517,692 | 3.0 kb | Proximal (<10kb) | 238 | |
| chr20:31,544,400–31,544,954 | 2.4 kb | Proximal (<10kb) | 132 | |
| chr20:31,547,036–31,547,487 | at TSS | At TSS | 666 | |
| chr20:31,553,230–31,553,610 | 5.8 kb | Proximal (<10kb) | 93 | |
| chr20:31,572,435–31,573,822 | 58.7 kb | Distal (>10kb) Multiome | 1193 | |
| chr20:31,595,608–31,596,479 | 81.5 kb | Distal (>10kb) Multiome | 676 | |
| chr20:31,604,042–31,606,325 | 89.7 kb | Distal (>10kb) Multiome | 1198 | |
| chr20:31,606,499–31,608,983 | 94.2 kb | Distal (>10kb) Multiome | 1081 | |
| chr20:31,612,623–31,613,367 | 98.5 kb | Distal (>10kb) Multiome | 858 | |
| chr20:31,661,610–31,662,406 | 147.3 kb | Distal (>10kb) Multiome | 836 | |
| chr20:31,693,987–31,694,929 | 179.9 kb | Distal (>10kb) Multiome | 357 | |
| chr20:31,722,556–31,724,276 | 209.2 kb | Distal (>10kb) Multiome | 1147 | |
| chr20:31,738,777–31,739,576 | 224.7 kb | Distal (>10kb) Multiome | 923 | |
| chr20:31,822,496–31,823,111 | 308.5 kb | Distal (>10kb) Multiome | 479 |
Genomic view of the HM13 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.