The gene encodes a cysteine protease and member of the peptidase C15 family of proteins. The encoded protein cleaves amino terminal pyroglutamate residues from protein substrates including thyrotropin-releasing hormone and other neuropeptides. Expression of this gene may be downregulated in colorectal cancer, while activity of the encoded protein may be negatively correlated with cancer progression in colorectal cancer patients. Activity of the encoded protease may also be altered in other disease states including in liver cirrhosis, which is associated with reduced protease activity, and in necrozoospermia, which is associated with elevated protease activity. [provided by RefSeq, Jul 2016]
Transcription factors with Perturb-seq knockdown data for PGPEP1. 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 = PGPEP1 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 PGPEP1, 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 |
|---|---|---|---|---|
| chr19:18,058,070–18,058,878 | 282.1 kb | Distal (>10kb) Multiome | 542 | |
| chr19:18,104,219–18,104,847 | 236.1 kb | Distal (>10kb) Multiome | 466 | |
| chr19:18,109,636–18,110,594 | 230.5 kb | Distal (>10kb) Multiome | 601 | |
| chr19:18,117,556–18,118,528 | 222.7 kb | Distal (>10kb) Multiome | 550 | |
| chr19:18,152,230–18,153,823 | 187.8 kb | Distal (>10kb) Multiome | 809 | |
| chr19:18,160,950–18,161,791 | 179.2 kb | Distal (>10kb) Multiome | 494 | |
| chr19:18,173,513–18,174,441 | 166.8 kb | Distal (>10kb) Multiome | 667 | |
| chr19:18,192,530–18,193,908 | 147.6 kb | Distal (>10kb) Multiome | 758 | |
| chr19:18,202,796–18,205,452 | 136.4 kb | Distal (>10kb) Multiome | 823 | |
| chr19:18,220,660–18,221,487 | 119.6 kb | Distal (>10kb) Multiome | 134 | |
| chr19:18,223,665–18,226,306 | 116.6 kb | Distal (>10kb) Multiome | 790 | |
| chr19:18,232,737–18,233,413 | 107.5 kb | Distal (>10kb) Multiome | 789 | |
| chr19:18,278,462–18,282,788 | 58.8 kb | Distal (>10kb) Multiome | 1184 | |
| chr19:18,287,827–18,288,359 | 52.6 kb | Distal (>10kb) Multiome | 221 | |
| chr19:18,291,350–18,293,764 | 48.6 kb | Distal (>10kb) Multiome | 1026 | |
| chr19:18,322,635–18,323,493 | 17.4 kb | Distal (>10kb) Multiome | 814 | |
| chr19:18,328,417–18,328,936 | 12.0 kb | Distal (>10kb) Multiome | 488 | |
| chr19:18,339,807–18,340,160 | 716 bp | At TSS Multiome | 249 | |
| chr19:18,340,428–18,341,393 | 89 bp | At TSS Multiome | 747 | |
| chr19:18,373,917–18,374,961 | 33.9 kb | Distal (>10kb) Multiome | 971 | |
| chr19:18,388,239–18,388,884 | 47.9 kb | Distal (>10kb) Multiome | 910 | |
| chr19:18,416,224–18,418,189 | 76.0 kb | Distal (>10kb) Multiome HiCAR | 893 | |
| chr19:18,418,296–18,420,432 | 78.8 kb | Distal (>10kb) Multiome HiCAR | 773 | |
| chr19:18,428,554–18,429,777 | 88.5 kb | Distal (>10kb) Multiome | 489 | |
| chr19:18,433,114–18,434,328 | 93.5 kb | Distal (>10kb) Multiome | 446 | |
| chr19:18,436,634–18,439,166 | 96.6 kb | Distal (>10kb) Multiome | 799 | |
| chr19:18,521,058–18,522,859 | 181.7 kb | Distal (>10kb) Multiome | 849 | |
| chr19:18,543,118–18,544,249 | 203.1 kb | Distal (>10kb) Multiome | 574 | |
| chr19:18,557,570–18,558,196 | 217.2 kb | Distal (>10kb) Multiome | 738 | |
| chr19:18,571,234–18,572,258 | 231.1 kb | Distal (>10kb) Multiome | 972 | |
| chr19:18,588,272–18,591,023 | 250.0 kb | Distal (>10kb) Multiome | 1174 | |
| chr19:18,593,729–18,595,402 | 253.8 kb | Distal (>10kb) Multiome | 464 | |
| chr19:18,611,391–18,612,134 | 271.1 kb | Distal (>10kb) Multiome | 340 | |
| chr19:18,635,894–18,637,555 | 296.0 kb | Distal (>10kb) Multiome | 617 |
Genomic view of the PGPEP1 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.