This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015]
Transcription factors with Perturb-seq knockdown data for MBNL1. 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 = MBNL1 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 MBNL1, 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 |
|---|---|---|---|---|
| chr3:152,152,028–152,153,087 | 116.4 kb | Distal (>10kb) Multiome | 117 | |
| chr3:152,261,119–152,262,108 | 7.4 kb | Proximal (<10kb) Multiome | 129 | |
| chr3:152,263,402–152,264,062 | 4.8 kb | Proximal (<10kb) | 63 | |
| chr3:152,267,235–152,267,494 | 1.4 kb | Proximal (<10kb) | 63 | |
| chr3:152,268,291–152,269,801 | 112 bp | At TSS Multiome | 992 | |
| chr3:152,269,934–152,270,473 | 1.0 kb | Proximal (<10kb) | 287 |
Genomic view of the MBNL1 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.