This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]
Transcription factors with Perturb-seq knockdown data for HPS1. 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 = HPS1 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 HPS1, 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 |
|---|---|---|---|---|
| chr10:98,309,066–98,309,892 | 137.2 kb | Distal (>10kb) Multiome | 380 | |
| chr10:98,414,616–98,415,730 | 31.7 kb | Distal (>10kb) Multiome | 701 | |
| chr10:98,446,188–98,447,219 | 83 bp | At TSS Multiome | 725 | |
| chr10:98,454,361–98,454,740 | 7.6 kb | Proximal (<10kb) | 51 | |
| chr10:98,456,133–98,456,625 | 9.4 kb | Proximal (<10kb) | 50 | |
| chr10:98,467,326–98,468,343 | 20.8 kb | Distal (>10kb) Multiome | 539 | |
| chr10:98,559,915–98,560,656 | 113.4 kb | Distal (>10kb) Multiome | 57 | |
| chr10:98,601,370–98,602,074 | 154.8 kb | Distal (>10kb) Multiome | 96 | |
| chr10:98,620,457–98,621,138 | 173.7 kb | Distal (>10kb) Multiome | 169 | |
| chr10:98,647,080–98,647,812 | 200.5 kb | Distal (>10kb) Multiome | 159 | |
| chr10:99,236,018–99,237,092 | 789.3 kb | Distal (>10kb) Multiome HiCAR | 141 | |
| chr10:99,266,221–99,266,995 | 819.7 kb | Distal (>10kb) Multiome HiCAR | 113 | |
| chr10:99,370,159–99,370,697 | 923.5 kb | Distal (>10kb) Multiome HiCAR | 14 |
Genomic view of the HPS1 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.