This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Transcription factors with Perturb-seq knockdown data for PCBD1. 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 = PCBD1 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 PCBD1, 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 |
|---|---|---|---|---|
| chr10:70,672,118–70,672,962 | 216.0 kb | Distal (>10kb) Multiome | 465 | |
| chr10:70,815,560–70,816,821 | 72.6 kb | Distal (>10kb) Multiome HiCAR | 746 | |
| chr10:70,880,126–70,880,297 | 8.0 kb | Proximal (<10kb) | 243 | |
| chr10:70,887,437–70,888,780 | 220 bp | At TSS Multiome | 728 | |
| chr10:70,890,961–70,891,134 | 2.7 kb | Proximal (<10kb) | 256 | |
| chr10:71,212,161–71,213,632 | 324.0 kb | Distal (>10kb) Multiome HiCAR | 581 |
Genomic view of the PCBD1 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.