The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane, and it may directly function in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Transcription factors with Perturb-seq knockdown data for AP3M1. 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 = AP3M1 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 AP3M1, 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 |
|---|---|---|---|---|
| chr10:73,873,847–73,875,246 | 276.2 kb | Distal (>10kb) Multiome | 654 | |
| chr10:73,906,669–73,907,201 | 243.9 kb | Distal (>10kb) Multiome | 417 | |
| chr10:73,910,388–73,911,812 | 239.7 kb | Distal (>10kb) Multiome | 486 | |
| chr10:73,965,730–73,966,725 | 184.6 kb | Distal (>10kb) Multiome | 552 | |
| chr10:73,994,650–73,995,392 | 155.7 kb | Distal (>10kb) Multiome | 69 | |
| chr10:73,997,294–73,999,626 | 152.9 kb | Distal (>10kb) Multiome | 964 | |
| chr10:74,150,306–74,151,881 | 325 bp | At TSS Multiome | 926 | |
| chr10:74,176,195–74,177,295 | 25.8 kb | Distal (>10kb) Multiome | 1072 | |
| chr10:75,099,885–75,100,763 | 949.3 kb | Distal (>10kb) Multiome HiCAR | 419 | |
| chr10:75,111,043–75,112,358 | 960.6 kb | Distal (>10kb) Multiome HiCAR | 857 |
Genomic view of the AP3M1 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.