The protein encoded by this gene is a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to increase mitochondrial biogenesis, which could lead to renal fibrosis. Another function of this protein is that of a guanyltransferase, adding GMP to the 5' end of tRNA(His). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
Transcription factors with Perturb-seq knockdown data for THG1L. 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 = THG1L 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 THG1L, 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 |
|---|---|---|---|---|
| chr5:157,574,988–157,576,496 | 155.5 kb | Distal (>10kb) Multiome HiCAR | 533 | |
| chr5:157,651,151–157,652,376 | 79.7 kb | Distal (>10kb) Multiome HiCAR | 337 | |
| chr5:157,670,928–157,672,025 | 60.0 kb | Distal (>10kb) Multiome HiCAR | 295 | |
| chr5:157,731,147–157,732,116 | 199 bp | At TSS Multiome | 887 | |
| chr5:157,740,354–157,740,536 | 8.9 kb | Proximal (<10kb) | 101 | |
| chr5:157,743,286–157,744,563 | 12.3 kb | Distal (>10kb) Multiome | 750 | |
| chr5:157,858,538–157,859,484 | 127.7 kb | Distal (>10kb) Multiome | 749 | |
| chr5:157,913,392–157,915,108 | 182.3 kb | Distal (>10kb) Multiome | 259 | |
| chr5:157,918,858–157,919,789 | 188.1 kb | Distal (>10kb) Multiome | 265 | |
| chr5:157,948,652–157,949,339 | 217.6 kb | Distal (>10kb) Multiome | 389 | |
| chr5:157,964,847–157,965,475 | 233.7 kb | Distal (>10kb) Multiome | 76 | |
| chr5:159,099,838–159,101,146 | 1369.0 kb | Distal (>10kb) Multiome HiCAR | 500 |
Genomic view of the THG1L 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.