The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]
Transcription factors with Perturb-seq knockdown data for APBB1. 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 = APBB1 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 APBB1, 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 |
|---|---|---|---|---|
| chr11:6,234,062–6,235,769 | 184.2 kb | Distal (>10kb) Multiome | 776 | |
| chr11:6,237,822–6,239,512 | 180.2 kb | Distal (>10kb) Multiome | 164 | |
| chr11:6,249,589–6,250,614 | 169.1 kb | Distal (>10kb) Multiome | 268 | |
| chr11:6,251,174–6,251,654 | 167.7 kb | Distal (>10kb) Multiome | 193 | |
| chr11:6,258,709–6,260,456 | 159.4 kb | Distal (>10kb) Multiome | 283 | |
| chr11:6,267,833–6,269,111 | 150.6 kb | Distal (>10kb) Multiome | 142 | |
| chr11:6,280,060–6,282,351 | 138.3 kb | Distal (>10kb) Multiome | 214 | |
| chr11:6,318,947–6,321,304 | 99.1 kb | Distal (>10kb) Multiome | 591 | |
| chr11:6,353,367–6,353,932 | 65.5 kb | Distal (>10kb) Multiome | 395 | |
| chr11:6,367,341–6,367,799 | 51.6 kb | Distal (>10kb) Multiome | 55 | |
| chr11:6,389,605–6,390,990 | 28.7 kb | Distal (>10kb) Multiome HiCAR | 752 | |
| chr11:6,405,086–6,405,670 | 13.7 kb | Distal (>10kb) Multiome | 99 | |
| chr11:6,418,399–6,419,618 | 17 bp | At TSS Multiome | 494 | |
| chr11:6,468,896–6,469,642 | 50.2 kb | Distal (>10kb) Multiome | 253 | |
| chr11:6,473,129–6,474,612 | 55.0 kb | Distal (>10kb) Multiome | 591 | |
| chr11:6,480,885–6,482,114 | 62.3 kb | Distal (>10kb) Multiome | 828 | |
| chr11:6,496,967–6,497,550 | 78.2 kb | Distal (>10kb) Multiome | 71 | |
| chr11:6,586,489–6,587,591 | 167.9 kb | Distal (>10kb) Multiome | 231 | |
| chr11:6,603,192–6,604,726 | 184.7 kb | Distal (>10kb) Multiome | 908 | |
| chr11:6,606,600–6,607,433 | 188.0 kb | Distal (>10kb) Multiome | 532 | |
| chr11:6,611,505–6,613,097 | 193.3 kb | Distal (>10kb) Multiome | 996 | |
| chr11:6,618,753–6,619,738 | 200.4 kb | Distal (>10kb) Multiome | 587 | |
| chr11:6,629,672–6,631,067 | 211.4 kb | Distal (>10kb) Multiome | 226 | |
| chr11:6,655,068–6,656,298 | 236.7 kb | Distal (>10kb) Multiome | 314 | |
| chr11:6,682,693–6,683,793 | 264.4 kb | Distal (>10kb) Multiome | 950 |
Genomic view of the APBB1 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.