The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for BTBD1. 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 = BTBD1 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 BTBD1, 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 |
|---|---|---|---|---|
| chr15:82,809,212–82,810,601 | 257.6 kb | Distal (>10kb) Multiome | 808 | |
| chr15:82,849,476–82,850,366 | 217.4 kb | Distal (>10kb) Multiome | 450 | |
| chr15:82,910,611–82,911,202 | 156.3 kb | Distal (>10kb) Multiome | 35 | |
| chr15:82,952,161–82,953,316 | 114.5 kb | Distal (>10kb) Multiome | 430 | |
| chr15:82,985,830–82,986,497 | 81.1 kb | Distal (>10kb) Multiome | 853 | |
| chr15:83,010,925–83,012,341 | 55.6 kb | Distal (>10kb) Multiome | 964 | |
| chr15:83,066,587–83,067,782 | 5 bp | At TSS Multiome | 877 | |
| chr15:83,106,916–83,108,096 | 40.1 kb | Distal (>10kb) Multiome | 392 | |
| chr15:83,143,995–83,145,038 | 77.0 kb | Distal (>10kb) Multiome | 146 | |
| chr15:83,178,820–83,179,295 | 111.7 kb | Distal (>10kb) Multiome | 114 | |
| chr15:83,206,651–83,208,545 | 141.0 kb | Distal (>10kb) Multiome | 607 |
Genomic view of the BTBD1 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.