This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]
Transcription factors with Perturb-seq knockdown data for PTCH1. 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 = PTCH1 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 PTCH1, 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 |
|---|---|---|---|---|
| chr9:95,316,718–95,317,949 | 191.8 kb | Distal (>10kb) Multiome HiCAR | 992 | |
| chr9:95,349,147–95,350,071 | 159.7 kb | Distal (>10kb) Multiome | 150 | |
| chr9:95,426,603–95,427,267 | 82.4 kb | Distal (>10kb) Multiome | 841 | |
| chr9:95,504,550–95,504,792 | 1.1 kb | Proximal (<10kb) | 150 | |
| chr9:95,505,799–95,509,826 | 30 bp | At TSS Multiome | 860 | |
| chr9:95,510,553–95,511,685 | 1.8 kb | Proximal (<10kb) Multiome | 774 | |
| chr9:95,512,046–95,512,812 | 3.3 kb | Proximal (<10kb) Multiome | 301 | |
| chr9:95,515,877–95,516,112 | 10.0 kb | Proximal (<10kb) | 241 | |
| chr9:95,516,738–95,517,044 | 7.5 kb | Proximal (<10kb) | 391 | |
| chr9:95,552,797–95,553,489 | 43.8 kb | Distal (>10kb) Multiome | 124 | |
| chr9:95,770,703–95,771,269 | 261.6 kb | Distal (>10kb) Multiome | 92 | |
| chr9:96,217,334–96,218,659 | 709.0 kb | Distal (>10kb) Multiome HiCAR | 570 |
Genomic view of the PTCH1 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.