Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for TERT. 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 = TERT 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 TERT, 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 |
|---|---|---|---|---|
| chr5:1,004,572–1,005,613 | 290.1 kb | Distal (>10kb) Multiome | 404 | |
| chr5:1,008,462–1,009,631 | 286.3 kb | Distal (>10kb) Multiome | 276 | |
| chr5:1,102,030–1,102,780 | 192.7 kb | Distal (>10kb) Multiome | 207 | |
| chr5:1,111,233–1,112,367 | 183.1 kb | Distal (>10kb) Multiome | 516 | |
| chr5:1,294,274–1,295,675 | 67 bp | At TSS Multiome | 415 | |
| chr5:1,344,394–1,345,745 | 50.0 kb | Distal (>10kb) Multiome | 652 | |
| chr5:1,385,584–1,386,611 | 90.9 kb | Distal (>10kb) Multiome | 420 | |
| chr5:1,444,671–1,446,554 | 150.4 kb | Distal (>10kb) Multiome | 180 | |
| chr5:1,523,066–1,524,710 | 229.0 kb | Distal (>10kb) Multiome | 630 | |
| chr5:1,593,846–1,595,021 | 299.5 kb | Distal (>10kb) Multiome | 682 |
Genomic view of the TERT 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.