This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]
Transcription factors with Perturb-seq knockdown data for BLOC1S5. 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 = BLOC1S5 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 BLOC1S5, 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 |
|---|---|---|---|---|
| chr6:7,672,770–7,673,478 | 391.1 kb | Distal (>10kb) Multiome HiCAR | 337 | |
| chr6:7,725,533–7,728,906 | 338.3 kb | Distal (>10kb) Multiome HiCAR | 639 | |
| chr6:7,899,453–7,900,085 | 164.7 kb | Distal (>10kb) Multiome | 251 | |
| chr6:7,909,415–7,911,636 | 154.3 kb | Distal (>10kb) Multiome | 964 | |
| chr6:8,063,680–8,065,380 | 3 bp | At TSS Multiome | 998 | |
| chr6:8,066,208–8,066,407 | 1.8 kb | Proximal (<10kb) | 24 | |
| chr6:8,101,740–8,103,121 | 38.2 kb | Distal (>10kb) Multiome | 850 |
Genomic view of the BLOC1S5 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.