Aliases for MBNL1 Gene
External Ids for MBNL1 Gene
Previous HGNC Symbols for MBNL1 Gene
Previous GeneCards Identifiers for MBNL1 Gene
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]
GeneCards Summary for MBNL1 Gene
MBNL1 (Muscleblind Like Splicing Regulator 1) is a Protein Coding gene. Diseases associated with MBNL1 include Myotonic Dystrophy and Myotonic Disease. Among its related pathways are Adipogenesis. Gene Ontology (GO) annotations related to this gene include double-stranded RNA binding. An important paralog of this gene is MBNL2.
UniProtKB/Swiss-Prot Summary for MBNL1 Gene
Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5'-YGCU(U/G)Y-3'consensus sequence. Binds to the IR RNA. Binds to expanded CUG repeat RNA, which folds into a hairpin structure containing GC base pairs and bulged, unpaired U residues.