This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015]
Transcription factors with Perturb-seq knockdown data for CTSD. 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 = CTSD 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 CTSD, 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 |
|---|---|---|---|---|
| chr11:1,546,495–1,547,275 | 217.1 kb | Distal (>10kb) Multiome | 395 | |
| chr11:1,568,160–1,568,834 | 195.4 kb | Distal (>10kb) Multiome | 58 | |
| chr11:1,571,981–1,572,819 | 191.6 kb | Distal (>10kb) Multiome | 410 | |
| chr11:1,573,992–1,574,943 | 189.2 kb | Distal (>10kb) Multiome | 379 | |
| chr11:1,693,591–1,694,322 | 69.8 kb | Distal (>10kb) Multiome | 562 | |
| chr11:1,763,393–1,764,621 | 99 bp | At TSS Multiome | 665 | |
| chr11:1,824,857–1,825,514 | 61.2 kb | Distal (>10kb) Multiome | 439 | |
| chr11:2,151,511–2,152,252 | 388.0 kb | Distal (>10kb) Multiome HiCAR | 296 |
Genomic view of the CTSD 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.