Anti-MBNL1 Antibody Picoband® Fluoro647 Conjugated

Muscleblind-like (Drosophila), also known as MBNL1, is a protein that in humans is encoded by the MBNL1 gene. It is mapped to 3q25.1-q25.2. 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.

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.

Cancer, Cardiovascular, Cholesterol Metabolism, Endocrine System, G Protein Signaling, Lipid and Lipoprotein Metabolism, Lipid Metabolism, Lipids/Lipoproteins, Metabolic Signaling Pathways, Metabolism, More Gpcr, Neuroscience, Neurotransmission, Pathways and Processes, Receptors / Channels, Signal Transduction, Signaling Pathway

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.

1. Fardaei, M., Rogers, M. T., Thorpe, H. M., Larkin, K., Hamshere, M. G., Harper, P. S., Brook, J. D. Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. Hum. Molec. Genet. 11: 805-814, 2002. 2. Freyermuth, F., Rau, F., Kokunai, Y., Linke, T., Sellier, C., Nakamori, M., Kino, Y., Arandel, L., Jollet, A., Thibault, C., Philipps, M., Vicaire, S., and 31 others. Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy. Nat. Commun. 7: 11067, 2016. Note: Electronic Article. 3. Han, H., Irimia, M., Ross, P. J., Sung, H.-K., Alipanahi, B., David, L., Golipour, A., Gabut, M., Michael, I. P., Nachman, E. N., Wang, E., Trcka, D., and 11 others. MBNL proteins repress ES-cell-specific alternative splicing and reprogramming. Nature 498: 241-245, 2013.