The protein encoded by this gene belongs to the family of X-pro-aminopeptidases that utilize a metal cofactor, and remove the N-terminal amino acid from peptides with a proline residue in the penultimate position. This protein has been shown to localize to the mitochondria of renal cells, and have a role in ciliary function. Mutations in this gene are associated with nephronophthisis-like nephropathy-1. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene, however, expression of some of these isoforms in vivo is not known.[provided by RefSeq, Mar 2011]
Transcription factors with Perturb-seq knockdown data for XPNPEP3. 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 = XPNPEP3 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 XPNPEP3, 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 |
|---|---|---|---|---|
| chr22:39,519,211–39,521,337 | 1336.9 kb | Distal (>10kb) Multiome HiCAR | 1150 | |
| chr22:39,532,183–39,533,171 | 1324.2 kb | Distal (>10kb) Multiome HiCAR | 799 | |
| chr22:39,534,113–39,535,455 | 1322.1 kb | Distal (>10kb) Multiome HiCAR | 621 | |
| chr22:40,636,029–40,637,455 | 220.3 kb | Distal (>10kb) Multiome | 903 | |
| chr22:40,684,688–40,685,220 | 172.2 kb | Distal (>10kb) Multiome | 101 | |
| chr22:40,818,885–40,819,668 | 37.7 kb | Distal (>10kb) Multiome | 683 | |
| chr22:40,856,149–40,857,393 | 250 bp | At TSS Multiome | 950 | |
| chr22:40,950,581–40,952,237 | 94.3 kb | Distal (>10kb) Multiome | 884 | |
| chr22:41,021,558–41,023,199 | 165.0 kb | Distal (>10kb) Multiome | 978 | |
| chr22:41,091,127–41,092,906 | 234.5 kb | Distal (>10kb) Multiome | 880 | |
| chr22:42,365,301–42,366,142 | 1508.5 kb | Distal (>10kb) Multiome HiCAR | 197 | |
| chr22:42,368,263–42,369,908 | 1512.3 kb | Distal (>10kb) Multiome HiCAR | 592 |
Genomic view of the XPNPEP3 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.