This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
Transcription factors with Perturb-seq knockdown data for PUS1. 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 = PUS1 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 PUS1, 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 |
|---|---|---|---|---|
| chr12:131,682,187–131,682,744 | 246.9 kb | Distal (>10kb) Multiome | 150 | |
| chr12:131,710,558–131,711,365 | 218.4 kb | Distal (>10kb) Multiome | 947 | |
| chr12:131,827,942–131,828,736 | 100.9 kb | Distal (>10kb) Multiome | 309 | |
| chr12:131,830,019–131,831,053 | 98.7 kb | Distal (>10kb) Multiome | 495 | |
| chr12:131,894,077–131,895,155 | 34.8 kb | Distal (>10kb) Multiome | 460 | |
| chr12:131,895,483–131,896,833 | 33.0 kb | Distal (>10kb) Multiome | 784 | |
| chr12:131,928,499–131,930,478 | 165 bp | At TSS Multiome | 908 | |
| chr12:131,949,435–131,950,660 | 20.6 kb | Distal (>10kb) Multiome | 770 | |
| chr12:132,083,735–132,085,216 | 154.9 kb | Distal (>10kb) Multiome | 882 | |
| chr12:132,143,424–132,145,177 | 215.1 kb | Distal (>10kb) Multiome | 886 | |
| chr12:132,153,764–132,154,281 | 224.8 kb | Distal (>10kb) Multiome | 467 | |
| chr12:132,189,320–132,190,290 | 260.5 kb | Distal (>10kb) Multiome | 452 |
Genomic view of the PUS1 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.