This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]
Transcription factors with Perturb-seq knockdown data for P3H1. 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 = P3H1 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 P3H1, 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 |
|---|---|---|---|---|
| chr1:42,657,991–42,659,026 | 108.7 kb | Distal (>10kb) Multiome | 952 | |
| chr1:42,681,723–42,683,347 | 84.7 kb | Distal (>10kb) Multiome | 924 | |
| chr1:42,739,796–42,740,734 | 26.7 kb | Distal (>10kb) Multiome | 365 | |
| chr1:42,765,982–42,767,804 | 159 bp | At TSS Multiome | 899 | |
| chr1:42,816,354–42,817,722 | 50.2 kb | Distal (>10kb) Multiome | 721 | |
| chr1:42,845,973–42,847,060 | 79.5 kb | Distal (>10kb) Multiome | 723 | |
| chr1:42,923,882–42,925,144 | 157.5 kb | Distal (>10kb) Multiome | 878 | |
| chr1:42,957,739–42,959,536 | 191.9 kb | Distal (>10kb) Multiome | 943 | |
| chr1:43,007,293–43,009,203 | 241.7 kb | Distal (>10kb) Multiome | 496 |
Genomic view of the P3H1 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.