This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for BPTF. 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 = BPTF 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 BPTF, 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 |
|---|---|---|---|---|
| chr17:67,717,249–67,718,509 | 107.7 kb | Distal (>10kb) Multiome | 991 | |
| chr17:67,752,011–67,752,512 | 73.1 kb | Distal (>10kb) Multiome | 77 | |
| chr17:67,779,002–67,779,504 | 46.3 kb | Distal (>10kb) Multiome | 391 | |
| chr17:67,824,729–67,826,379 | 33 bp | At TSS Multiome | 892 | |
| chr17:67,974,294–67,975,317 | 149.4 kb | Distal (>10kb) Multiome | 220 | |
| chr17:67,993,084–67,994,333 | 168.2 kb | Distal (>10kb) Multiome | 896 | |
| chr17:68,019,469–68,020,645 | 194.6 kb | Distal (>10kb) Multiome | 1154 | |
| chr17:68,033,975–68,034,637 | 208.7 kb | Distal (>10kb) Multiome | 288 | |
| chr17:68,035,094–68,036,341 | 210.1 kb | Distal (>10kb) Multiome | 1009 | |
| chr17:68,101,069–68,102,208 | 276.1 kb | Distal (>10kb) Multiome | 934 |
Genomic view of the BPTF 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.