This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Transcription factors with Perturb-seq knockdown data for PCSK9. 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 = PCSK9 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 PCSK9, 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 |
|---|---|---|---|---|
| chr1:54,764,040–54,765,112 | 274.9 kb | Distal (>10kb) Multiome | 791 | |
| chr1:54,775,004–54,775,454 | 264.3 kb | Distal (>10kb) Multiome | 135 | |
| chr1:54,781,116–54,781,700 | 258.2 kb | Distal (>10kb) Multiome | 190 | |
| chr1:54,800,637–54,801,431 | 238.3 kb | Distal (>10kb) Multiome | 286 | |
| chr1:54,886,423–54,888,260 | 152.3 kb | Distal (>10kb) Multiome | 867 | |
| chr1:54,950,380–54,951,143 | 88.8 kb | Distal (>10kb) Multiome | 459 | |
| chr1:54,980,478–54,981,190 | 58.8 kb | Distal (>10kb) Multiome | 185 | |
| chr1:54,996,310–54,996,725 | 42.9 kb | Distal (>10kb) Multiome | 355 | |
| chr1:55,021,822–55,022,741 | 17.3 kb | Distal (>10kb) Multiome | 538 | |
| chr1:55,037,050–55,037,356 | 2.2 kb | Proximal (<10kb) | 7 | |
| chr1:55,039,084–55,041,196 | 93 bp | At TSS Multiome | 743 | |
| chr1:55,197,062–55,197,632 | 157.7 kb | Distal (>10kb) Multiome | 178 | |
| chr1:55,213,795–55,216,078 | 175.8 kb | Distal (>10kb) Multiome | 933 | |
| chr1:55,232,539–55,233,863 | 193.7 kb | Distal (>10kb) Multiome | 196 | |
| chr1:55,313,810–55,314,345 | 274.6 kb | Distal (>10kb) Multiome | 208 | |
| chr1:55,337,950–55,338,809 | 298.9 kb | Distal (>10kb) Multiome | 141 |
Genomic view of the PCSK9 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.