This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011]
Transcription factors with Perturb-seq knockdown data for AP4S1. 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 = AP4S1 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 AP4S1, 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 |
|---|---|---|---|---|
| chr14:30,822,055–30,822,752 | 203.2 kb | Distal (>10kb) Multiome | 275 | |
| chr14:30,873,914–30,876,058 | 151.0 kb | Distal (>10kb) Multiome | 887 | |
| chr14:31,025,320–31,027,211 | 1.1 kb | Proximal (<10kb) Multiome | 1060 | |
| chr14:31,029,422–31,029,650 | 4.0 kb | Proximal (<10kb) | 47 | |
| chr14:31,030,968–31,031,141 | 5.5 kb | Proximal (<10kb) | 8 | |
| chr14:31,038,509–31,039,198 | 13.4 kb | Distal (>10kb) Multiome | 498 | |
| chr14:31,059,276–31,059,946 | 34.3 kb | Distal (>10kb) Multiome | 491 | |
| chr14:31,060,184–31,060,800 | 35.0 kb | Distal (>10kb) Multiome | 152 | |
| chr14:31,206,827–31,208,656 | 182.4 kb | Distal (>10kb) Multiome | 1146 |
Genomic view of the AP4S1 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.