This gene encodes a member of the peptidase C1 family and lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in cells of the immune system. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate heavy and light chains that form a disulfide-linked dimer. A portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. [provided by RefSeq, Nov 2015]
Transcription factors with Perturb-seq knockdown data for CTSC. 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 = CTSC 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 CTSC, 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 |
|---|---|---|---|---|
| chr11:88,042,156–88,045,195 | 294.2 kb | Distal (>10kb) Multiome | 271 | |
| chr11:88,045,330–88,046,584 | 291.6 kb | Distal (>10kb) Multiome | 55 | |
| chr11:88,103,338–88,104,240 | 233.9 kb | Distal (>10kb) Multiome | 281 | |
| chr11:88,174,680–88,176,137 | 162.3 kb | Distal (>10kb) Multiome | 513 | |
| chr11:88,297,316–88,298,087 | 40.0 kb | Distal (>10kb) Multiome | 228 | |
| chr11:88,301,008–88,301,969 | 36.4 kb | Distal (>10kb) Multiome | 249 | |
| chr11:88,308,509–88,309,240 | 29.2 kb | Distal (>10kb) Multiome | 175 | |
| chr11:88,336,663–88,337,061 | 710 bp | At TSS | 131 | |
| chr11:88,337,232–88,338,805 | 15 bp | At TSS Multiome | 823 | |
| chr11:88,341,722–88,342,219 | 4.0 kb | Proximal (<10kb) | 71 | |
| chr11:88,508,219–88,510,027 | 171.4 kb | Distal (>10kb) Multiome | 354 |
Genomic view of the CTSC 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.