This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for TNNT1. 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 = TNNT1 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 TNNT1, 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 |
|---|---|---|---|---|
| chr19:55,062,536–55,063,406 | 86.0 kb | Distal (>10kb) Multiome | 586 | |
| chr19:55,069,129–55,069,807 | 79.7 kb | Distal (>10kb) Multiome | 288 | |
| chr19:55,080,038–55,082,744 | 67.7 kb | Distal (>10kb) Multiome | 639 | |
| chr19:55,086,246–55,087,525 | 62.1 kb | Distal (>10kb) Multiome | 258 | |
| chr19:55,091,780–55,093,292 | 56.9 kb | Distal (>10kb) Multiome | 208 | |
| chr19:55,095,398–55,095,977 | 53.4 kb | Distal (>10kb) Multiome | 90 | |
| chr19:55,117,134–55,119,109 | 31.5 kb | Distal (>10kb) Multiome | 881 | |
| chr19:55,141,249–55,141,536 | 5.4 kb | Proximal (<10kb) | 350 | |
| chr19:55,146,210–55,148,117 | 2.3 kb | Proximal (<10kb) Multiome | 528 | |
| chr19:55,156,193–55,157,266 | 7.4 kb | Proximal (<10kb) Multiome | 317 | |
| chr19:55,160,567–55,161,360 | 11.6 kb | Distal (>10kb) Multiome | 554 | |
| chr19:55,165,952–55,167,256 | 17.5 kb | Distal (>10kb) Multiome | 719 | |
| chr19:55,173,717–55,174,287 | 24.9 kb | Distal (>10kb) Multiome | 330 | |
| chr19:55,178,876–55,179,477 | 29.9 kb | Distal (>10kb) Multiome | 479 | |
| chr19:55,216,490–55,217,227 | 67.7 kb | Distal (>10kb) Multiome | 1077 | |
| chr19:55,257,751–55,259,635 | 110.0 kb | Distal (>10kb) Multiome | 1054 | |
| chr19:55,279,599–55,280,933 | 131.1 kb | Distal (>10kb) Multiome | 805 | |
| chr19:55,283,835–55,284,716 | 134.8 kb | Distal (>10kb) Multiome | 242 | |
| chr19:55,301,640–55,302,240 | 152.8 kb | Distal (>10kb) Multiome | 448 | |
| chr19:55,338,676–55,340,358 | 190.4 kb | Distal (>10kb) Multiome | 882 | |
| chr19:55,340,675–55,341,535 | 192.2 kb | Distal (>10kb) Multiome | 368 | |
| chr19:55,353,720–55,354,487 | 204.9 kb | Distal (>10kb) Multiome | 297 | |
| chr19:55,369,099–55,370,447 | 220.8 kb | Distal (>10kb) Multiome | 383 | |
| chr19:55,383,539–55,384,553 | 234.7 kb | Distal (>10kb) Multiome | 374 | |
| chr19:55,384,697–55,386,560 | 236.5 kb | Distal (>10kb) Multiome | 903 | |
| chr19:55,406,950–55,408,675 | 258.9 kb | Distal (>10kb) Multiome | 965 | |
| chr19:55,580,080–55,581,090 | 431.6 kb | Distal (>10kb) Multiome HiCAR | 718 | |
| chr19:55,585,644–55,586,314 | 436.7 kb | Distal (>10kb) Multiome HiCAR | 370 | |
| chr19:55,586,698–55,587,594 | 438.1 kb | Distal (>10kb) Multiome HiCAR | 463 |
Genomic view of the TNNT1 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.