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. GO annotations related to this gene include poly(A) RNA binding and double-stranded RNA binding. An important paralog of this gene is MBNL2.
UniProtKB/Swiss-Prot 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-3consensus 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.