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Mouse Anti-MBNL1 Recombinant Antibody (CBMAB-BR344LY)


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Summary

Host Animal
Mouse
Specificity
Human
Antibody Isotype
IgG
Application
IF: 1:1000 dilution, IHC: 1:300-1:500 dilution, WB: 0.1-0.5 μg/ml

Basic Information

Immunogen
Full-length recombinant human muscleblind-like 1 protein
Specificity
Human
Antibody Isotype
IgG
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
50% glycerol
Preservative
5mM sodium azide
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
Muscleblind-like protein 1
Introduction
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. [provided by RefSeq, Sep 2015]
Entrez Gene ID
4154
UniProt ID
Q9NR56
Alternative Names
Muscleblind-like protein 1;Triplet-expansion RNA-binding protein;MBNL1;EXP, KIAA0428, MBNL;
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.
Biological Process
Embryonic limb morphogenesis Source: UniProtKB
In utero embryonic development Source: UniProtKB
mRNA processing Source: UniProtKB-KW
Myoblast differentiation Source: UniProtKB
Nervous system development Source: UniProtKB
Regulation of alternative mRNA splicing, via spliceosome Source: GO_Central
Regulation of RNA splicing Source: UniProtKB
RNA splicing Source: UniProtKB
Cellular Location
Cytoplasm
Nucleus
Other locations
Cytoplasmic granule
Note: Localized with DDX1, TIAL1 and YBX1 in stress granules upon stress (PubMed:18335541). Localized in the cytoplasm of multinucleated myotubes (PubMed:18335541). Colocalizes with nuclear foci of retained expanded-repeat transcripts in myotubes from patients affected by myotonic dystrophy (PubMed:10970838, PubMed:11590133, PubMed:11929853).
Involvement in disease
Dystrophia myotonica 1 (DM1):
The protein represented in this entry may be involved in disease pathogenesis. In muscle cells from patients, MBNL1 is sequestered by DMPK RNAs containing pathogenic CUG triplet repeat expansions. MBNL1 binding is proportional to repeat length consistent with the direct correlation between the length of repeat expansion and disease severity. A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias.
Corneal dystrophy, Fuchs endothelial, 3 (FECD3):
A late-onset form of Fuchs endothelial corneal dystrophy, a disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.
More Infomation

Nitschke, L., Hu, R. C., Miller, A. N., Lucas, L., & Cooper, T. A. (2023). Alternative splicing mediates the compensatory upregulation of MBNL2 upon MBNL1 loss-of-function. Nucleic Acids Research, 51(3), 1245-1259.

Zhang, Q., Wu, Y., Chen, J., Tan, F., Mou, J., Du, Z., ... & Yuan, C. (2022). The regulatory role of both MBNL1 and MBNL1-AS1 in several common cancers. Current Pharmaceutical Design, 28(7), 581-585.

Bugg, D., Bailey, L. R., Bretherton, R. C., Beach, K. E., Reichardt, I. M., Robeson, K. Z., ... & Davis, J. (2022). MBNL1 drives dynamic transitions between fibroblasts and myofibroblasts in cardiac wound healing. Cell Stem Cell, 29(3), 419-433.

Sta Maria, N. S., Zhou, C., Lee, S. J., Valiulahi, P., Li, X., Choi, J., ... & Reddy, S. (2021). Mbnl1 and Mbnl2 regulate brain structural integrity in mice. Communications Biology, 4(1), 1342.

Xu, Y., Liang, C., Luo, Y., & Zhang, T. (2021). MBNL1 regulates isoproterenol‐induced myocardial remodelling in vitro and in vivo. Journal of Cellular and Molecular Medicine, 25(2), 1100-1115.

Itskovich, S. S., Gurunathan, A., Clark, J., Burwinkel, M., Wunderlich, M., Berger, M. R., ... & Lee, L. H. (2020). MBNL1 regulates essential alternative RNA splicing patterns in MLL-rearranged leukemia. Nature communications, 11(1), 2369.

Wei, X., Wang, B., Wang, Q., Yang, X., Yang, Y., Fang, Z., ... & Song, D. (2020). MiR-362-5p, which is regulated by long non-coding RNA MBNL1-AS1, promotes the cell proliferation and tumor growth of bladder cancer by targeting QKI. Frontiers in pharmacology, 11, 164.

Huang, K., Masuda, A., Chen, G., Bushra, S., Kamon, M., Araki, T., ... & Ohno, K. (2020). Inhibition of cyclooxygenase-1 by nonsteroidal anti-inflammatory drugs demethylates MeR2 enhancer and promotes Mbnl1 transcription in myogenic cells. Scientific Reports, 10(1), 2558.

Jiang, X., Ruan, X. L., Xue, Y. X., Yang, S., Shi, M., & Wang, L. N. (2020). Metformin reduces the senescence of renal tubular epithelial cells in diabetic nephropathy via the MBNL1/miR-130a-3p/STAT3 pathway. Oxidative medicine and cellular longevity, 2020.

Welte, T., Tuck, A. C., Papasaikas, P., Carl, S. H., Flemr, M., Knuckles, P., ... & Großhans, H. (2019). The RNA hairpin binder TRIM71 modulates alternative splicing by repressing MBNL1. Genes & development, 33(17-18), 1221-1235.

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For research use only. Not intended for any clinical use.

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