This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]
Transcription factors with Perturb-seq knockdown data for TGFB1. 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 = TGFB1 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 TGFB1, 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 |
|---|---|---|---|---|
| chr19:41,175,862–41,176,466 | 176.9 kb | Distal (>10kb) Multiome | 330 | |
| chr19:41,192,831–41,193,504 | 159.8 kb | Distal (>10kb) Multiome | 377 | |
| chr19:41,218,771–41,219,447 | 134.0 kb | Distal (>10kb) Multiome | 345 | |
| chr19:41,262,152–41,262,839 | 90.6 kb | Distal (>10kb) Multiome | 787 | |
| chr19:41,262,983–41,265,249 | 89.0 kb | Distal (>10kb) Multiome | 1022 | |
| chr19:41,309,685–41,310,764 | 42.8 kb | Distal (>10kb) Multiome | 1016 | |
| chr19:41,324,382–41,326,571 | 27.8 kb | Distal (>10kb) Multiome | 670 | |
| chr19:41,351,173–41,351,794 | 1.6 kb | Proximal (<10kb) Multiome | 465 | |
| chr19:41,352,533–41,354,401 | 975 bp | At TSS Multiome | 807 | |
| chr19:41,363,475–41,364,733 | 11.0 kb | Distal (>10kb) Multiome | 774 | |
| chr19:41,376,421–41,376,995 | 23.7 kb | Distal (>10kb) Multiome | 379 | |
| chr19:41,397,079–41,398,056 | 44.5 kb | Distal (>10kb) Multiome | 849 | |
| chr19:41,406,970–41,407,622 | 54.3 kb | Distal (>10kb) Multiome | 88 | |
| chr19:41,426,905–41,428,213 | 74.5 kb | Distal (>10kb) Multiome | 512 | |
| chr19:41,439,463–41,440,163 | 86.8 kb | Distal (>10kb) Multiome | 765 | |
| chr19:41,548,798–41,549,566 | 196.2 kb | Distal (>10kb) Multiome | 212 | |
| chr19:41,563,228–41,563,884 | 210.5 kb | Distal (>10kb) Multiome | 419 |
Genomic view of the TGFB1 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.