This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]
Transcription factors with Perturb-seq knockdown data for HPS3. 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 = HPS3 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 HPS3, 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 |
|---|---|---|---|---|
| chr3:148,991,054–148,992,463 | 138.1 kb | Distal (>10kb) Multiome | 826 | |
| chr3:149,085,604–149,087,032 | 43.2 kb | Distal (>10kb) Multiome | 1012 | |
| chr3:149,120,361–149,120,583 | 9.1 kb | Proximal (<10kb) | 101 | |
| chr3:149,129,236–149,130,370 | 17 bp | At TSS Multiome | 951 | |
| chr3:149,196,583–149,197,308 | 67.3 kb | Distal (>10kb) Multiome | 127 | |
| chr3:149,198,425–149,199,153 | 69.1 kb | Distal (>10kb) Multiome | 164 | |
| chr3:149,352,512–149,352,988 | 223.0 kb | Distal (>10kb) Multiome | 387 |
Genomic view of the HPS3 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.