The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008]
Transcription factors with Perturb-seq knockdown data for PTS. 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 = PTS 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 PTS, 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 |
|---|---|---|---|---|
| chr11:111,926,372–111,927,689 | 299.3 kb | Distal (>10kb) Multiome | 767 | |
| chr11:111,936,752–111,938,016 | 289.1 kb | Distal (>10kb) Multiome | 671 | |
| chr11:111,960,703–111,961,374 | 265.4 kb | Distal (>10kb) Multiome | 192 | |
| chr11:111,976,357–111,978,029 | 249.2 kb | Distal (>10kb) Multiome | 293 | |
| chr11:111,982,641–111,983,482 | 243.1 kb | Distal (>10kb) Multiome | 290 | |
| chr11:112,024,495–112,025,893 | 201.2 kb | Distal (>10kb) Multiome | 1024 | |
| chr11:112,073,749–112,074,754 | 152.2 kb | Distal (>10kb) Multiome | 828 | |
| chr11:112,086,268–112,087,320 | 139.6 kb | Distal (>10kb) Multiome | 883 | |
| chr11:112,219,816–112,220,031 | 6.4 kb | Proximal (<10kb) | 216 | |
| chr11:112,225,928–112,226,959 | 93 bp | At TSS Multiome | 809 | |
| chr11:112,289,677–112,290,832 | 63.9 kb | Distal (>10kb) Multiome HiCAR | 568 | |
| chr11:113,273,470–113,274,284 | 1047.6 kb | Distal (>10kb) Multiome HiCAR | 55 |
Genomic view of the PTS 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.