This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for TPP1. 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 = TPP1 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 TPP1, 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 |
|---|---|---|---|---|
| chr11:6,318,947–6,321,304 | 299.4 kb | Distal (>10kb) Multiome | 591 | |
| chr11:6,353,367–6,353,932 | 265.8 kb | Distal (>10kb) Multiome | 395 | |
| chr11:6,367,341–6,367,799 | 251.9 kb | Distal (>10kb) Multiome | 55 | |
| chr11:6,389,605–6,390,990 | 229.1 kb | Distal (>10kb) Multiome | 752 | |
| chr11:6,405,086–6,405,670 | 214.0 kb | Distal (>10kb) Multiome | 99 | |
| chr11:6,418,399–6,419,618 | 200.3 kb | Distal (>10kb) Multiome | 494 | |
| chr11:6,468,896–6,469,642 | 150.2 kb | Distal (>10kb) Multiome | 253 | |
| chr11:6,473,129–6,474,612 | 145.4 kb | Distal (>10kb) Multiome | 591 | |
| chr11:6,480,885–6,482,114 | 138.0 kb | Distal (>10kb) Multiome | 828 | |
| chr11:6,496,967–6,497,550 | 122.1 kb | Distal (>10kb) Multiome | 71 | |
| chr11:6,586,489–6,587,591 | 32.4 kb | Distal (>10kb) Multiome | 231 | |
| chr11:6,603,192–6,604,726 | 15.7 kb | Distal (>10kb) Multiome | 908 | |
| chr11:6,606,600–6,607,433 | 12.3 kb | Distal (>10kb) Multiome | 532 | |
| chr11:6,611,505–6,613,097 | 7.1 kb | Proximal (<10kb) Multiome | 996 | |
| chr11:6,618,753–6,619,738 | 34 bp | At TSS Multiome | 587 | |
| chr11:6,620,815–6,621,422 | 1.4 kb | Proximal (<10kb) | 10 | |
| chr11:6,629,672–6,631,067 | 11.1 kb | Distal (>10kb) Multiome | 226 | |
| chr11:6,655,068–6,656,298 | 36.4 kb | Distal (>10kb) Multiome | 314 | |
| chr11:6,682,693–6,683,793 | 64.0 kb | Distal (>10kb) Multiome | 950 |
Genomic view of the TPP1 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.