This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]
Transcription factors with Perturb-seq knockdown data for PLEKHA1. 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 = PLEKHA1 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 PLEKHA1, 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 |
|---|---|---|---|---|
| chr10:122,112,641–122,114,050 | 261.8 kb | Distal (>10kb) Multiome | 855 | |
| chr10:122,162,689–122,164,583 | 211.2 kb | Distal (>10kb) Multiome | 396 | |
| chr10:122,342,331–122,342,835 | 32.1 kb | Distal (>10kb) Multiome | 161 | |
| chr10:122,373,966–122,375,595 | 48 bp | At TSS Multiome | 792 | |
| chr10:122,460,993–122,462,467 | 87.0 kb | Distal (>10kb) Multiome | 302 |
Genomic view of the PLEKHA1 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.