The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]
Transcription factors with Perturb-seq knockdown data for BLOC1S6. 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 = BLOC1S6 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 BLOC1S6, 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 |
|---|---|---|---|---|
| chr15:45,376,152–45,377,230 | 210.8 kb | Distal (>10kb) Multiome | 97 | |
| chr15:45,378,041–45,378,887 | 208.9 kb | Distal (>10kb) Multiome | 372 | |
| chr15:45,401,783–45,403,544 | 185.0 kb | Distal (>10kb) Multiome | 903 | |
| chr15:45,471,908–45,473,344 | 114.9 kb | Distal (>10kb) Multiome HiCAR | 124 | |
| chr15:45,522,020–45,523,300 | 64.6 kb | Distal (>10kb) Multiome | 511 | |
| chr15:45,573,841–45,574,674 | 13.1 kb | Distal (>10kb) Multiome | 166 | |
| chr15:45,583,788–45,584,651 | 3.3 kb | Proximal (<10kb) Multiome | 249 | |
| chr15:45,585,157–45,585,433 | 1.9 kb | Proximal (<10kb) | 53 | |
| chr15:45,586,825–45,587,849 | 45 bp | At TSS Multiome | 1004 | |
| chr15:45,634,437–45,635,635 | 47.7 kb | Distal (>10kb) Multiome | 739 | |
| chr15:45,704,015–45,705,263 | 117.1 kb | Distal (>10kb) Multiome | 178 |
Genomic view of the BLOC1S6 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.