| Tissue Specificity | Highly expressed in cardiac, skeletal muscle and during myoblast differentiation. Weakly expressed in other tissues (at protein level). Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. |
| Function | 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. Regulates NCOR2 alternative splicing. |
| Protein Name | Muscleblind-Like Protein 1Triplet-Expansion Rna-Binding Protein |
| Cellular Localisation | NucleusCytoplasmCytoplasmic GranuleLocalized With Ddx1Tial1 And Ybx1 In Stress Granules Upon StressLocalized In The Cytoplasm Of Multinucleated MyotubesColocalizes With Nuclear Foci Of Retained Expanded-Repeat Transcripts In Myotubes From Patients Affected By Myotonic Dystrophy |
| Alternative Antibody Names | Anti-Muscleblind-Like Protein 1 antibodyAnti-Triplet-Expansion Rna-Binding Protein antibodyAnti-MBNL1 antibodyAnti-EXP antibodyAnti-KIAA0428 antibodyAnti-MBNL antibody |
Information sourced from Uniprot.org
