The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
Transcription factors with Perturb-seq knockdown data for PHACTR1. 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 = PHACTR1 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 PHACTR1, 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 |
|---|---|---|---|---|
| chr6:12,748,332–12,748,829 | 878 bp | At TSS | 32 | |
| chr6:12,748,978–12,750,462 | 263.6 kb | Distal (>10kb) Multiome | 362 | |
| chr6:12,751,809–12,752,000 | 2.1 kb | Proximal (<10kb) | 294 | |
| chr6:13,005,588–13,006,479 | 7.5 kb | Proximal (<10kb) Multiome | 171 | |
| chr6:13,011,773–13,012,144 | 1.4 kb | Proximal (<10kb) | 40 | |
| chr6:13,013,297–13,015,139 | 98 bp | At TSS Multiome | 410 |
Genomic view of the PHACTR1 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.