This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
Transcription factors with Perturb-seq knockdown data for PEPD. 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 = PEPD 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 PEPD, 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 |
|---|---|---|---|---|
| chr19:33,225,334–33,226,211 | 296.1 kb | Distal (>10kb) Multiome | 146 | |
| chr19:33,226,520–33,227,396 | 294.7 kb | Distal (>10kb) Multiome | 219 | |
| chr19:33,301,181–33,303,965 | 219.1 kb | Distal (>10kb) Multiome | 945 | |
| chr19:33,373,183–33,374,325 | 148.1 kb | Distal (>10kb) Multiome | 871 | |
| chr19:33,406,730–33,407,310 | 114.8 kb | Distal (>10kb) Multiome | 393 | |
| chr19:33,520,926–33,522,397 | 118 bp | At TSS Multiome | 747 | |
| chr19:33,621,458–33,623,467 | 100.2 kb | Distal (>10kb) Multiome | 384 | |
| chr19:33,777,882–33,778,531 | 256.4 kb | Distal (>10kb) Multiome | 668 | |
| chr19:33,795,218–33,798,802 | 273.9 kb | Distal (>10kb) Multiome | 887 | |
| chr19:33,819,821–33,820,728 | 298.4 kb | Distal (>10kb) Multiome | 512 |
Genomic view of the PEPD 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.