This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including TSC2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022]
Transcription factors with Perturb-seq knockdown data for TSC1. 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 = TSC1 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 TSC1, 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 |
|---|---|---|---|---|
| chr9:132,669,401–132,670,935 | 274.3 kb | Distal (>10kb) Multiome | 1040 | |
| chr9:132,770,159–132,770,672 | 174.1 kb | Distal (>10kb) Multiome | 385 | |
| chr9:132,794,730–132,795,358 | 149.7 kb | Distal (>10kb) Multiome | 159 | |
| chr9:132,877,859–132,878,978 | 66.2 kb | Distal (>10kb) Multiome | 676 | |
| chr9:132,944,084–132,945,377 | 181 bp | At TSS Multiome | 983 | |
| chr9:133,030,039–133,031,100 | 86.0 kb | Distal (>10kb) Multiome | 998 | |
| chr9:133,059,688–133,060,833 | 115.9 kb | Distal (>10kb) Multiome | 222 | |
| chr9:133,120,589–133,121,652 | 176.7 kb | Distal (>10kb) Multiome | 599 | |
| chr9:133,144,161–133,144,920 | 200.0 kb | Distal (>10kb) Multiome | 776 | |
| chr9:133,147,412–133,149,938 | 204.8 kb | Distal (>10kb) Multiome | 979 | |
| chr9:133,163,575–133,164,128 | 219.3 kb | Distal (>10kb) Multiome | 308 | |
| chr9:133,238,117–133,239,420 | 294.0 kb | Distal (>10kb) Multiome | 620 |
Genomic view of the TSC1 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.