This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protease. This transmembrane protease catalyzes the first step in the formation of amyloid beta peptide from amyloid precursor protein. Amyloid beta peptides are the main constituent of amyloid beta plaques, which accumulate in the brains of human Alzheimer's disease patients. [provided by RefSeq, Nov 2015]
Transcription factors with Perturb-seq knockdown data for BACE1. 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 = BACE1 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 BACE1, 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 |
|---|---|---|---|---|
| chr11:117,097,570–117,099,243 | 217.8 kb | Distal (>10kb) Multiome | 739 | |
| chr11:117,099,458–117,100,103 | 216.3 kb | Distal (>10kb) Multiome | 62 | |
| chr11:117,143,916–117,144,864 | 171.9 kb | Distal (>10kb) Multiome | 969 | |
| chr11:117,178,198–117,179,718 | 137.5 kb | Distal (>10kb) Multiome | 726 | |
| chr11:117,197,957–117,198,434 | 118.2 kb | Distal (>10kb) Multiome | 160 | |
| chr11:117,198,962–117,199,797 | 116.9 kb | Distal (>10kb) Multiome | 211 | |
| chr11:117,231,703–117,233,431 | 83.7 kb | Distal (>10kb) Multiome | 703 | |
| chr11:117,315,726–117,316,638 | 39 bp | At TSS Multiome | 619 | |
| chr11:117,327,486–117,328,627 | 11.7 kb | Distal (>10kb) Multiome | 751 | |
| chr11:117,410,817–117,412,004 | 95.1 kb | Distal (>10kb) Multiome | 247 | |
| chr11:117,429,727–117,430,361 | 113.8 kb | Distal (>10kb) Multiome | 126 | |
| chr11:117,443,412–117,443,876 | 127.5 kb | Distal (>10kb) Multiome | 185 | |
| chr11:117,551,878–117,552,889 | 236.1 kb | Distal (>10kb) Multiome | 100 |
Genomic view of the BACE1 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.