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MBNL1

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]
Full Name
Muscleblind-like protein 1
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.

Anti-MBNL1 antibodies

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Target: MBNL1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse
Clone: 5F9
Application*: WB
Target: MBNL1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse
Clone: 4A8
Application*: WB, IF
Target: MBNL1
Host: Mouse
Specificity: Mouse, Rat, Human
Clone: CBFYM-1836
Application*: WB, IP, IF, E
Target: MBNL1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Mouse, Human
Clone: CBFYM-1835
Application*: WB
Target: MBNL1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human, Mouse, Rat
Clone: CBFYM-1834
Application*: IC, IF, IH, WB
Target: MBNL1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: CBFYM-1832
Application*: E, WB, P, IF
Target: MBNL1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBFYM-1831
Application*: E, IF, P, WB
Target: MBNL1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBFYM-1830
Application*: E, WB
Target: MBNL1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat, Pig, Cattle, Chicken, Horse
Clone: CBFYM-0083
Application*: WB, IF
Target: MBNL1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 1D11
Application*: WB, E
Target: MBNL1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 3E7
Application*: WB, E
Target: MBNL1
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Application*: IF, IHC, WB
More Infomation
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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