Recombinant Human MBNL1 protein (ab114825)
Key features and details
- Expression system: Wheat germ
- Tags: GST tag N-Terminus
- Suitable for: ELISA, SDS-PAGE, WB
Description
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Product name
Recombinant Human MBNL1 protein
See all MBNL1 proteins and peptides -
Expression system
Wheat germ -
Accession
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Protein length
Full length protein -
Animal free
No -
Nature
Recombinant -
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Species
Human -
Sequence
MGRCSRENCK YLHPPPHLKT QLEINGRNNL IQQKNMAMLA QQMQLANAMM PGAPLQPVPM FSVAPSLATN ASAAAFNPYL GPVSPSLVPA EILPTAPMLV TGNPGVPVPA AAAAAAQKLM RTDRLEVCRE YQRGNCNRGE NDCRFAHPAD STMIDTNDNT VTVCMDYIKG RCSREKCKYF HPPAHLQAKI KAAQYQVNQA AAAQAAATAA AMTQSAVKSL KRPLEATFDL GIPQAVLPPL PKRPALEKTN GATAVFNTGI FQYQQALANM QLQQHTAFLP PGSILCMTPA TSVVPMVHGA TPATVSAATT SATSVPFAAT ATANQIPIIS AEHLTSHKYV TQM -
Predicted molecular weight
64 kDa including tags -
Amino acids
1 to 343 -
Tags
GST tag N-Terminus
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Associated products
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Related Products
Specifications
Our Abpromise guarantee covers the use of ab114825 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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Applications
ELISA
SDS-PAGE
Western blot
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Form
Liquid -
Additional notes
This product was previously labelled as Muscleblind-like 1.
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Concentration information loading...
Preparation and Storage
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Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00
Constituents: 0.3% Glutathione, 0.79% Tris HCl
General Info
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Alternative names
- EXP
- EXP35
- EXP40
see all -
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. -
Tissue specificity
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. -
Involvement in disease
Plays a role in the pathogenesis of dystrophia myotonica type 1 (DM1) [MIM:160900]. A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias. Note=In muscle cells from DM1 patients, MBNL1 is sequestered by DMPK RNAs containing 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. -
Sequence similarities
Belongs to the muscleblind family.
Contains 4 C3H1-type zinc fingers. -
Cellular localization
Nucleus. Cytoplasm. Cytoplasmic granule. Localized with DDX1, TIAL1 and YBX1 in stress granules upon stress. Localized in the cytoplasm of multinucleated myotubes. Colocalizes with nuclear foci of retained expanded-repeat transcripts in myotubes from patients affected by myotonic dystrophy. - Information by UniProt
Protocols
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
Datasheets and documents
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Datasheet download
References (1)
ab114825 has been referenced in 1 publication.
- Rong Z et al. Quantitative Studies of Muscleblind Proteins and Their Interaction With TCF4 RNA Foci Support Involvement in the Mechanism of Fuchs' Dystrophy. Invest Ophthalmol Vis Sci 60:3980-3991 (2019). PubMed: 31560764