MBNL1

Muscleblind-like protein 1; Isoform 6 of Muscleblind-like protein 1; Isoform 3 of Muscleblind-like protein 1; Isoform 5 of Muscleblind-like protein 1; Isoform 4 of Muscleblind-like protein 1;Isoform 2 of Muscleblind-like protein 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. Together with RNA binding proteins RBPMS and RBFOX2, activates vascular smooth muscle cells alternative splicing events (PubMed:37548402). Regulates NCOR2 alternative splicing (By similarity).

    Matrix Type

    • Plasma
    • Tissue/Cells

    Gene Symbol

    • MBNL1

    UniProt ID

    • Q9NR56
    • Q9NR56-2
    • Q9NR56-4
    • Q9NR56-5
    • Q9NR56-6

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