This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Transcription factors with Perturb-seq knockdown data for BUB1. 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 = BUB1 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 BUB1, 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 |
|---|---|---|---|---|
| chr2:110,674,910–110,675,609 | 2.5 kb | Proximal (<10kb) | 248 | |
| chr2:110,677,731–110,678,843 | 70 bp | At TSS Multiome | 773 | |
| chr2:110,687,491–110,688,343 | 9.8 kb | Proximal (<10kb) Multiome | 174 | |
| chr2:110,688,515–110,689,481 | 10.8 kb | Distal (>10kb) Multiome | 229 | |
| chr2:110,732,052–110,733,412 | 54.6 kb | Distal (>10kb) Multiome HiCAR | 341 | |
| chr2:110,770,133–110,771,424 | 92.8 kb | Distal (>10kb) Multiome | 297 |
Genomic view of the BUB1 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.