The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome. [provided by RefSeq, Feb 2017]
Transcription factors with Perturb-seq knockdown data for AP3D1. 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 = AP3D1 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 AP3D1, 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 |
|---|---|---|---|---|
| chr19:1,851,701–1,852,216 | 299.6 kb | Distal (>10kb) Multiome | 115 | |
| chr19:1,855,082–1,856,620 | 296.1 kb | Distal (>10kb) Multiome | 476 | |
| chr19:1,861,439–1,865,723 | 287.6 kb | Distal (>10kb) Multiome | 891 | |
| chr19:1,875,645–1,876,693 | 275.3 kb | Distal (>10kb) Multiome | 887 | |
| chr19:1,885,058–1,885,861 | 266.0 kb | Distal (>10kb) Multiome | 495 | |
| chr19:1,904,556–1,906,084 | 246.1 kb | Distal (>10kb) Multiome | 907 | |
| chr19:1,940,240–1,942,987 | 210.6 kb | Distal (>10kb) Multiome | 901 | |
| chr19:2,034,637–2,035,967 | 116.5 kb | Distal (>10kb) Multiome | 368 | |
| chr19:2,041,744–2,042,811 | 109.4 kb | Distal (>10kb) Multiome | 586 | |
| chr19:2,049,171–2,052,365 | 100.3 kb | Distal (>10kb) Multiome | 977 | |
| chr19:2,060,703–2,062,560 | 90.0 kb | Distal (>10kb) Multiome | 913 | |
| chr19:2,095,898–2,097,954 | 54.9 kb | Distal (>10kb) Multiome | 945 | |
| chr19:2,150,726–2,152,200 | 176 bp | At TSS Multiome | 761 | |
| chr19:2,163,561–2,164,587 | 12.3 kb | Distal (>10kb) Multiome | 750 | |
| chr19:2,235,315–2,237,253 | 85.0 kb | Distal (>10kb) Multiome | 1119 | |
| chr19:2,269,007–2,271,589 | 117.8 kb | Distal (>10kb) Multiome HiCAR | 983 | |
| chr19:2,273,467–2,274,136 | 122.2 kb | Distal (>10kb) Multiome | 825 | |
| chr19:2,327,828–2,329,150 | 177.0 kb | Distal (>10kb) Multiome | 759 | |
| chr19:2,424,712–2,426,099 | 273.7 kb | Distal (>10kb) Multiome | 261 | |
| chr19:2,426,254–2,428,729 | 276.2 kb | Distal (>10kb) Multiome | 1035 |
Genomic view of the AP3D1 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.