Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1 component and inhibit the complex. Pyruvate dehydrogenase phosphatases catalyze the dephosphorylation and activation of the E1 component to reverse the effects of pyruvate dehydrogenase kinases. Pyruvate dehydrogenase phosphatase is a heterodimer consisting of catalytic and regulatory subunits. Two catalytic subunits have been reported; one is predominantly expressed in skeletal muscle and another one is is much more abundant in the liver. The catalytic subunit, encoded by this gene, is the former, and belongs to the protein phosphatase 2C (PP2C) superfamily. Along with the pyruvate dehydrogenase complex and pyruvate dehydrogenase kinases, this enzyme is located in the mitochondrial matrix. Mutation in this gene causes pyruvate dehydrogenase phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]
Transcription factors with Perturb-seq knockdown data for PDP1. 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 = PDP1 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 PDP1, 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 |
|---|---|---|---|---|
| chr8:92,094,433–92,096,717 | 1822.5 kb | Distal (>10kb) Multiome HiCAR | 551 | |
| chr8:93,699,869–93,701,509 | 217.2 kb | Distal (>10kb) Multiome | 609 | |
| chr8:93,740,245–93,741,472 | 176.7 kb | Distal (>10kb) Multiome | 876 | |
| chr8:93,754,676–93,755,350 | 162.9 kb | Distal (>10kb) Multiome | 573 | |
| chr8:93,915,949–93,918,134 | 1.0 kb | Proximal (<10kb) Multiome | 821 | |
| chr8:93,943,280–93,944,641 | 26.3 kb | Distal (>10kb) Multiome | 354 | |
| chr8:93,952,630–93,953,256 | 35.3 kb | Distal (>10kb) Multiome | 63 | |
| chr8:93,991,163–93,992,088 | 73.9 kb | Distal (>10kb) Multiome | 561 | |
| chr8:94,119,662–94,120,755 | 202.5 kb | Distal (>10kb) Multiome | 269 |
Genomic view of the PDP1 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.