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MBNL1 / MBNL
muscleblind-like splicing regulator 1
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.
| Gene Name: | muscleblind-like splicing regulator 1 |
| Synonyms: | MBNL1, EXP35, EXP40, KIAA0428, Muscleblind (Drosophila)-like, Muscleblind-like protein 1, MBNL, EXP, EXP42, Muscleblind-like (Drosophila) |
| Target Sequences: | NM_021038 NP_066368.2 Q9NR56 |
Publications (3)
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