The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
Transcription factors with Perturb-seq knockdown data for PTH1R. 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 = PTH1R 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 PTH1R, 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 |
|---|---|---|---|---|
| chr3:46,629,617–46,630,264 | 252.2 kb | Distal (>10kb) Multiome | 464 | |
| chr3:46,692,995–46,694,167 | 188.6 kb | Distal (>10kb) Multiome HiCAR | 390 | |
| chr3:46,811,739–46,812,895 | 69.8 kb | Distal (>10kb) Multiome | 322 | |
| chr3:46,845,393–46,846,375 | 36.3 kb | Distal (>10kb) Multiome | 489 | |
| chr3:46,881,541–46,883,129 | 479 bp | At TSS Multiome | 257 | |
| chr3:46,883,230–46,883,766 | at TSS | At TSS | 120 | |
| chr3:46,888,263–46,888,534 | 4.9 kb | Proximal (<10kb) | 20 | |
| chr3:46,892,261–46,893,159 | 10.4 kb | Distal (>10kb) Multiome | 297 | |
| chr3:46,909,425–46,910,035 | 27.5 kb | Distal (>10kb) Multiome | 394 | |
| chr3:46,976,068–46,977,401 | 94.6 kb | Distal (>10kb) Multiome | 857 | |
| chr3:46,979,117–46,980,211 | 97.4 kb | Distal (>10kb) Multiome | 777 | |
| chr3:46,987,364–46,988,143 | 105.5 kb | Distal (>10kb) Multiome | 452 | |
| chr3:46,998,405–46,998,990 | 116.5 kb | Distal (>10kb) Multiome | 400 | |
| chr3:47,008,983–47,010,119 | 127.3 kb | Distal (>10kb) Multiome | 328 | |
| chr3:47,163,333–47,164,907 | 281.9 kb | Distal (>10kb) Multiome | 981 |
Genomic view of the PTH1R 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.