This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Transcription factors with Perturb-seq knockdown data for HPS4. 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 = HPS4 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 HPS4, 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 |
|---|---|---|---|---|
| chr22:26,428,616–26,429,779 | 54.7 kb | Distal (>10kb) Multiome | 481 | |
| chr22:26,483,346–26,484,220 | 57 bp | At TSS Multiome | 895 | |
| chr22:26,512,193–26,512,760 | 28.7 kb | Distal (>10kb) Multiome | 692 | |
| chr22:26,588,940–26,590,564 | 106.3 kb | Distal (>10kb) Multiome | 545 | |
| chr22:26,632,639–26,633,120 | 149.0 kb | Distal (>10kb) Multiome | 225 | |
| chr22:26,644,963–26,645,832 | 161.6 kb | Distal (>10kb) Multiome | 522 | |
| chr22:26,658,631–26,659,207 | 175.1 kb | Distal (>10kb) Multiome | 485 | |
| chr22:26,672,265–26,673,339 | 189.0 kb | Distal (>10kb) Multiome | 604 |
Genomic view of the HPS4 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.