This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis and required for skeletal patterning and programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-cell acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain of E2A is replaced by the DNA binding domain of this protein, transforms cells by constitutively activating transcription of genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]
Transcription factors with Perturb-seq knockdown data for PBX1. 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 = PBX1 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 PBX1, 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 |
|---|---|---|---|---|
| chr1:163,399,976–163,400,589 | 1159.2 kb | Distal (>10kb) Multiome HiCAR | 146 | |
| chr1:163,561,453–163,562,798 | 997.4 kb | Distal (>10kb) Multiome HiCAR | 254 | |
| chr1:163,590,875–163,591,911 | 967.9 kb | Distal (>10kb) Multiome HiCAR | 191 | |
| chr1:163,595,781–163,597,181 | 963.1 kb | Distal (>10kb) Multiome HiCAR | 255 | |
| chr1:164,320,728–164,321,710 | 238.0 kb | Distal (>10kb) Multiome | 197 | |
| chr1:164,558,536–164,560,055 | 392 bp | At TSS Multiome | 509 | |
| chr1:164,565,089–164,565,258 | 5.9 kb | Proximal (<10kb) | 20 | |
| chr1:164,565,381–164,565,639 | 6.2 kb | Proximal (<10kb) | 34 | |
| chr1:164,588,689–164,589,675 | 29.6 kb | Distal (>10kb) Multiome | 262 | |
| chr1:164,601,368–164,602,363 | 42.6 kb | Distal (>10kb) Multiome | 294 | |
| chr1:164,711,754–164,712,814 | 153.0 kb | Distal (>10kb) Multiome | 468 | |
| chr1:164,774,689–164,775,602 | 215.7 kb | Distal (>10kb) Multiome | 367 | |
| chr1:164,787,103–164,788,268 | 228.2 kb | Distal (>10kb) Multiome | 416 |
Genomic view of the PBX1 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.