The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
Transcription factors with Perturb-seq knockdown data for POMT1. 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 = POMT1 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 POMT1, 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 |
|---|---|---|---|---|
| chr9:131,276,571–131,278,332 | 224.8 kb | Distal (>10kb) Multiome | 558 | |
| chr9:131,282,624–131,283,561 | 219.9 kb | Distal (>10kb) Multiome | 217 | |
| chr9:131,330,816–131,331,776 | 171.5 kb | Distal (>10kb) Multiome | 463 | |
| chr9:131,349,882–131,350,535 | 152.7 kb | Distal (>10kb) Multiome | 525 | |
| chr9:131,373,092–131,374,082 | 129.4 kb | Distal (>10kb) Multiome | 962 | |
| chr9:131,393,060–131,394,879 | 109.0 kb | Distal (>10kb) Multiome | 722 | |
| chr9:131,407,727–131,408,216 | 94.9 kb | Distal (>10kb) Multiome | 172 | |
| chr9:131,502,603–131,504,327 | 81 bp | At TSS Multiome | 860 | |
| chr9:131,530,588–131,531,834 | 28.4 kb | Distal (>10kb) Multiome | 635 | |
| chr9:131,739,378–131,740,405 | 237.1 kb | Distal (>10kb) Multiome | 513 |
Genomic view of the POMT1 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.