This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for HPS5. 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 = HPS5 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 HPS5, 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 |
|---|---|---|---|---|
| chr11:18,105,744–18,106,263 | 216.1 kb | Distal (>10kb) Multiome | 873 | |
| chr11:18,318,016–18,318,522 | 3.9 kb | Proximal (<10kb) Multiome | 49 | |
| chr11:18,321,766–18,322,926 | 200 bp | At TSS Multiome | 1044 | |
| chr11:18,393,759–18,396,665 | 74.1 kb | Distal (>10kb) Multiome | 1203 | |
| chr11:18,526,292–18,527,325 | 204.7 kb | Distal (>10kb) Multiome | 1012 | |
| chr11:18,588,293–18,589,047 | 266.6 kb | Distal (>10kb) Multiome | 837 |
Genomic view of the HPS5 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.