MBNL1 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. Belongs to the muscleblind family. 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. 7 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: RNA splicing; RNA-binding
Chromosomal Location of Human Ortholog: 3|3 D
Cellular Component:  cytoplasm; cytoplasmic stress granule; cytosol; nucleoplasm; nucleus
Molecular Function:  double-stranded RNA binding; metal ion binding; regulatory region RNA binding; RNA binding
Biological Process:  alternative mRNA splicing, via spliceosome; embryonic limb morphogenesis; in utero embryonic development; mRNA processing; mRNA splice site selection; myoblast differentiation; nervous system development; regulation of alternative mRNA splicing, via spliceosome; regulation of RNA splicing; RNA splicing; skeletal muscle tissue development
Reference #:  Q9JKP5 (UniProtKB)
Alt. Names/Synonyms: Exp; Mbnl; Mbnl1; mKIAA0428; muscleblind-like 1 (Drosophila); Muscleblind-like protein 1; Triplet-expansion RNA-binding protein
Gene Symbols: Mbnl1
Molecular weight: 36,976 Da
Basal Isoelectric point: 8.96  Predict pI for various phosphorylation states
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MBNL1

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene