This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in other GTPases that facilitates tRNA binding. The encoded protein is thought to prevent misincorporation of amino acids in stressful, suboptimal conditions. An allelic variant in this gene has been associated with early infantile epileptic encephalopathy-40. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Transcription factors with Perturb-seq knockdown data for GUF1. 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 = GUF1 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 GUF1, 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 |
|---|---|---|---|---|
| chr4:42,785,999–42,786,986 | 1891.9 kb | Distal (>10kb) Multiome HiCAR | 147 | |
| chr4:44,446,500–44,449,513 | 229.6 kb | Distal (>10kb) Multiome | 609 | |
| chr4:44,677,872–44,679,014 | 16 bp | At TSS Multiome | 817 | |
| chr4:44,679,116–44,679,421 | 623 bp | At TSS | 82 | |
| chr4:44,725,729–44,727,272 | 48.0 kb | Distal (>10kb) Multiome | 859 | |
| chr4:44,863,107–44,864,499 | 185.6 kb | Distal (>10kb) Multiome | 212 |
Genomic view of the GUF1 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.