MBNL1 Recombinant Rabbit Monoclonal Antibody [JE38-34] (HA721564)

UNIPROT #

Q9NR56

PROTEIN NAME

MBNL1

SYNONYMS

EXP antibody;EXP35 antibody;EXP40 antibody;EXP42 antibody;KIAA0428 antibody;MBNL antibody;MBNL protein antibody;MBNL1 antibody;MBNL1_HUMAN antibody;Muscleblind 41kD isoform antibody;Muscleblind like antibody;Muscleblind like protein 1 antibody;Muscleblind like splicing regulator 1 antibody;Muscleblind-like protein 1 antibody;Triplet expansion RNA binding protein antibody;Triplet-expansion RNA-binding protein antibody

SUBCELLULAR LOCATION

Nucleus. Cytoplasm.

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. 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.