The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts. However, the encoded protein is also expressed in a significant fraction of human breast cancers, where it could contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and short stature. [provided by RefSeq, Apr 2013]
Transcription factors with Perturb-seq knockdown data for CTSK. 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 = CTSK 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 CTSK, 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 |
|---|---|---|---|---|
| chr1:150,515,085–150,516,227 | 292.6 kb | Distal (>10kb) Multiome | 781 | |
| chr1:150,548,849–150,549,823 | 259.0 kb | Distal (>10kb) Multiome | 620 | |
| chr1:150,560,828–150,562,623 | 246.9 kb | Distal (>10kb) Multiome | 897 | |
| chr1:150,578,554–150,580,300 | 228.7 kb | Distal (>10kb) Multiome | 990 | |
| chr1:150,629,012–150,630,122 | 178.8 kb | Distal (>10kb) Multiome | 875 | |
| chr1:150,634,804–150,635,486 | 173.0 kb | Distal (>10kb) Multiome HiCAR | 113 | |
| chr1:150,641,008–150,641,820 | 166.7 kb | Distal (>10kb) Multiome HiCAR | 66 | |
| chr1:150,696,984–150,697,716 | 111.0 kb | Distal (>10kb) Multiome | 619 | |
| chr1:150,875,863–150,877,222 | 68.4 kb | Distal (>10kb) Multiome | 912 | |
| chr1:150,925,543–150,926,754 | 118.1 kb | Distal (>10kb) Multiome | 813 | |
| chr1:150,973,876–150,975,458 | 166.6 kb | Distal (>10kb) Multiome | 590 | |
| chr1:150,979,331–150,979,990 | 171.3 kb | Distal (>10kb) Multiome | 562 | |
| chr1:150,981,212–150,981,672 | 173.1 kb | Distal (>10kb) Multiome | 379 | |
| chr1:151,006,389–151,007,024 | 198.5 kb | Distal (>10kb) Multiome | 496 | |
| chr1:151,008,116–151,008,852 | 200.2 kb | Distal (>10kb) Multiome | 763 | |
| chr1:151,047,405–151,048,764 | 240.3 kb | Distal (>10kb) Multiome | 714 | |
| chr1:151,059,187–151,059,842 | 251.4 kb | Distal (>10kb) Multiome | 821 | |
| chr1:151,060,204–151,060,723 | 252.3 kb | Distal (>10kb) Multiome | 346 | |
| chr1:151,070,369–151,071,463 | 262.9 kb | Distal (>10kb) Multiome | 835 |
Genomic view of the CTSK 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.