This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]
Transcription factors with Perturb-seq knockdown data for PQBP1. 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 = PQBP1 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 PQBP1, 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 |
|---|---|---|---|---|
| chrX:48,597,350–48,598,476 | 300.0 kb | Distal (>10kb) Multiome | 660 | |
| chrX:48,676,132–48,677,132 | 221.4 kb | Distal (>10kb) Multiome | 642 | |
| chrX:48,695,862–48,697,105 | 201.3 kb | Distal (>10kb) Multiome | 600 | |
| chrX:48,737,116–48,737,756 | 160.5 kb | Distal (>10kb) Multiome | 580 | |
| chrX:48,801,126–48,802,845 | 96.0 kb | Distal (>10kb) Multiome | 734 | |
| chrX:48,891,080–48,891,988 | 6.2 kb | Proximal (<10kb) Multiome | 525 | |
| chrX:48,897,163–48,898,345 | 9 bp | At TSS Multiome | 672 | |
| chrX:48,911,574–48,912,414 | 14.1 kb | Distal (>10kb) Multiome | 671 | |
| chrX:48,917,179–48,917,999 | 19.5 kb | Distal (>10kb) Multiome | 468 | |
| chrX:48,918,412–48,919,792 | 21.2 kb | Distal (>10kb) Multiome | 693 | |
| chrX:48,957,469–48,959,105 | 60.4 kb | Distal (>10kb) Multiome | 722 | |
| chrX:49,001,538–49,002,676 | 104.4 kb | Distal (>10kb) Multiome | 540 | |
| chrX:49,039,840–49,040,493 | 142.2 kb | Distal (>10kb) Multiome | 436 | |
| chrX:49,042,954–49,044,182 | 145.7 kb | Distal (>10kb) Multiome | 664 | |
| chrX:49,053,328–49,054,050 | 155.7 kb | Distal (>10kb) Multiome | 403 | |
| chrX:49,071,863–49,072,612 | 174.2 kb | Distal (>10kb) Multiome | 107 | |
| chrX:49,073,903–49,074,451 | 176.2 kb | Distal (>10kb) Multiome | 464 | |
| chrX:49,100,885–49,101,855 | 203.4 kb | Distal (>10kb) Multiome | 562 | |
| chrX:49,155,633–49,156,658 | 258.3 kb | Distal (>10kb) Multiome | 524 | |
| chrX:49,163,555–49,164,377 | 266.1 kb | Distal (>10kb) Multiome | 485 | |
| chrX:49,166,140–49,166,713 | 268.6 kb | Distal (>10kb) Multiome | 416 | |
| chrX:49,184,219–49,185,254 | 286.6 kb | Distal (>10kb) Multiome | 389 | |
| chrX:49,186,113–49,186,660 | 288.5 kb | Distal (>10kb) Multiome | 589 | |
| chrX:49,190,730–49,191,899 | 293.3 kb | Distal (>10kb) Multiome | 636 |
Genomic view of the PQBP1 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.