SUBCELLULAR LOCALIZATION
| intracellular
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| intracellular,cytoplasm,cytosolic,granule
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| intracellular,nucleus,nucleoplasm
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text
| accumulating in nuclear foci in dystrophia myotonic |
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in response to stress, MBNL1 moved to cytoplasmic stress granules, where it colocalized with YBX1, which was previously reported to be a component of stress granules |
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MBNL1 cytoplasmic, but not nuclear, isoform promotes neurite morphogenesis and reverses the morphological defects caused by expanded CUG RNA |
basic FUNCTION
| may be promoting muscle differentiation |
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playing a role in mRNA metabolism in the cytoplasm |
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having a determinative role for a large subset of splicing transitions that occur during postnatal heart development |
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involved in the differentiation of muscle inclusion by controlling the splicing patterns of several pre-mRNAs |
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plays a crucial role in myotonic dystrophy |
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RNA binding protein that regulate alternative splicing transitions during development |
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implicated in regulating fetal-to-adult transitions in alternative splicing in the heart |
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role for MBNL1 in controlling insulin receptor exon 11 inclusion via binding to a downstream intronic enhancer element |
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promotes exon inclusion, as it does for the INSR gene, by binding to downstream sites |
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CELF1 and MBNL1 regulate alternative splicing |
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exerts robust splicing activity in the absence of RNA binding |
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can act as either a splicing suppressor or enhancer in a transcript-specific manner |
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MBNL1, MBNL2, MBNL3 plays important roles in muscle and eye development and in myotonic dystrophy (DM), in which expanded CUG or CCUG repeats functionally deplete MBNL proteins |
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central and negative regulatory role for MBNL1, MBNL2 proteins in pluripotency |
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MBNL1 and RBFOX2 cooperate to establish a splicing programme involved in pluripotent stem cell differentiation |
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RBFOX1 cooperates with MBNL1 to control splicing in muscle, including events altered in myotonic dystrophy type 1 |
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key role for MBNL1 loss in the initiation of DM1 cardiac disease |
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plays a conserved role in negatively regulating TGFB1 signaling, and is required for normal valve morphogenesis and homeostasis |
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depletion of MBNL1 and/or MBNL2 reduced localization of hundreds of transcripts, implicating MBLN1, 2, 3 in localization of mRNAs to neurites |
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plays an important role in regulating the transition between differentiation and pluripotency and in the pathogenesis of myotonic dystrophy type 1 (DM1), a CTG expansion disorder |
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K63-linked ubiquitination of MBNL1 is required for its cytoplasmic localization and deubiquitination of cytoplasmic MBNL1 is pathogenic in the DM1 brain |