This gene encodes a member of the SNF1 subfamily of serine/threonine protein kinases. Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit encodytic accessory factors. The encoded protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes binding of AP-2 to sorting signals found in membrane-bound receptors and subsequent receptor endocytosis. Its kinase activity is stimulated by clathrin. This kinase has been shown to play an important role in regulating the clathrin-mediated endocytosis of the rabies virus, facilitating infection. Inhibitors of this kinase are being studied as candidate therapeutics to disrupt the entry of viruses, including SARS-CoV-2, into target cells. It is also involved in positive regulation of Notch pathway signaling in mammals. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Aug 2020]
Transcription factors with Perturb-seq knockdown data for AAK1. 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 = AAK1 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 AAK1, 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 |
|---|---|---|---|---|
| chr2:69,348,684–69,349,416 | 294.7 kb | Distal (>10kb) Multiome | 41 | |
| chr2:69,386,703–69,387,800 | 256.5 kb | Distal (>10kb) Multiome | 995 | |
| chr2:69,436,764–69,438,011 | 206.3 kb | Distal (>10kb) Multiome | 972 | |
| chr2:69,450,768–69,451,516 | 192.6 kb | Distal (>10kb) Multiome | 69 | |
| chr2:69,642,875–69,644,362 | 90 bp | At TSS Multiome | 960 | |
| chr2:69,741,315–69,742,479 | 98.2 kb | Distal (>10kb) Multiome | 894 | |
| chr2:69,798,793–69,799,774 | 155.5 kb | Distal (>10kb) Multiome | 417 | |
| chr2:69,829,001–69,830,537 | 185.8 kb | Distal (>10kb) Multiome | 1005 | |
| chr2:69,914,102–69,915,874 | 271.1 kb | Distal (>10kb) Multiome | 1112 |
Genomic view of the AAK1 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.