This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for PC. 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 = PC 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 PC, 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 |
|---|---|---|---|---|
| chr11:66,568,061–66,568,910 | 287.7 kb | Distal (>10kb) Multiome | 392 | |
| chr11:66,592,561–66,593,452 | 263.2 kb | Distal (>10kb) Multiome | 857 | |
| chr11:66,616,078–66,617,408 | 239.7 kb | Distal (>10kb) Multiome | 1011 | |
| chr11:66,637,919–66,639,003 | 217.7 kb | Distal (>10kb) Multiome | 872 | |
| chr11:66,677,182–66,678,796 | 178.3 kb | Distal (>10kb) Multiome | 926 | |
| chr11:66,728,259–66,728,943 | 127.8 kb | Distal (>10kb) Multiome | 275 | |
| chr11:66,744,354–66,745,291 | 111.5 kb | Distal (>10kb) Multiome | 747 | |
| chr11:66,842,896–66,843,952 | 12.9 kb | Distal (>10kb) Multiome HiCAR | 843 | |
| chr11:66,855,758–66,857,980 | 106 bp | At TSS Multiome HiCAR | 795 | |
| chr11:66,882,995–66,883,462 | 27.0 kb | Distal (>10kb) Multiome | 277 | |
| chr11:66,957,708–66,959,038 | 102.2 kb | Distal (>10kb) Multiome HiCAR | 957 | |
| chr11:67,023,002–67,023,688 | 167.2 kb | Distal (>10kb) Multiome | 243 | |
| chr11:67,056,596–67,057,312 | 200.6 kb | Distal (>10kb) Multiome | 382 | |
| chr11:67,071,470–67,071,999 | 215.5 kb | Distal (>10kb) Multiome | 302 | |
| chr11:67,117,553–67,120,314 | 262.8 kb | Distal (>10kb) Multiome | 762 | |
| chr11:67,239,493–67,240,241 | 383.7 kb | Distal (>10kb) Multiome | 792 |
Genomic view of the PC 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.