This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for BLOC1S4. 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 = BLOC1S4 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 BLOC1S4, 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 |
|---|---|---|---|---|
| chr4:6,470,551–6,471,324 | 245.2 kb | Distal (>10kb) Multiome | 373 | |
| chr4:6,472,122–6,472,949 | 243.6 kb | Distal (>10kb) Multiome | 157 | |
| chr4:6,574,723–6,575,464 | 141.1 kb | Distal (>10kb) Multiome | 601 | |
| chr4:6,640,089–6,641,132 | 75.6 kb | Distal (>10kb) Multiome | 851 | |
| chr4:6,673,157–6,674,688 | 42.2 kb | Distal (>10kb) Multiome | 920 | |
| chr4:6,709,388–6,710,099 | 6.3 kb | Proximal (<10kb) Multiome | 693 | |
| chr4:6,715,775–6,716,910 | 4 bp | At TSS Multiome | 822 | |
| chr4:6,720,337–6,720,554 | 4.2 kb | Proximal (<10kb) | 376 | |
| chr4:6,782,106–6,784,027 | 66.4 kb | Distal (>10kb) Multiome | 886 | |
| chr4:6,908,950–6,910,715 | 193.5 kb | Distal (>10kb) Multiome HiCAR | 820 | |
| chr4:6,986,472–6,987,825 | 271.0 kb | Distal (>10kb) Multiome | 762 | |
| chr4:7,007,023–7,007,815 | 291.2 kb | Distal (>10kb) Multiome | 59 | |
| chr4:7,067,444–7,068,837 | 352.1 kb | Distal (>10kb) Multiome HiCAR | 887 | |
| chr4:7,101,878–7,102,488 | 385.9 kb | Distal (>10kb) Multiome HiCAR | 437 | |
| chr4:7,102,990–7,103,713 | 387.3 kb | Distal (>10kb) Multiome HiCAR | 565 |
Genomic view of the BLOC1S4 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.