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AB272043

Recombinant Human MBNL1 protein (Tagged)

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Recombinant Human MBNL1 protein (Tagged) is a Human Full Length protein, in the 1 to 382 aa range, expressed in Escherichia coli, with >90%, suitable for SDS-PAGE.

View Alternative Names

EXP, KIAA0428, MBNL, MBNL1, Muscleblind-like protein 1, Triplet-expansion RNA-binding protein

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SDS-PAGE - Recombinant Human MBNL1 protein (Tagged) (AB272043)
  • SDS-PAGE

Supplier Data

SDS-PAGE - Recombinant Human MBNL1 protein (Tagged) (AB272043)

SDS-PAGE analysis of ab272043.

15% gel run under reducing conditions.

Key facts

Purity

>90% SDS-PAGE

Expression system

Escherichia coli

Tags

Tag free

Applications

SDS-PAGE

applications

Biologically active

No

Accession

Q9NR56

Animal free

No

Carrier free

No

Species

Human

Storage buffer

Constituents: Glycerol (glycerin, glycerine), PBS, Tris buffer

storage-buffer

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Reactivity data

{ "title": "Reactivity Data", "filters": { "stats": ["", "Reactivity", "Dilution Info", "Notes"] }, "values": { "SDS-PAGE": { "reactivity":"TESTED_AND_REACTS", "dilution-info":"", "notes":"<p></p>" } } }
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Product details

Isoform 5.
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Sequence info

[{"sequence":"MAVSVTPIRDTKWLTLEVCREFQRGTCSRPDTECKFAHPSKSCQVENGRVIACFDSLKGRCSRENCKYLHPPPHLKTQLEINGRNNLIQQKNMAMLAQQMQLANAMMPGAPLQPVPMFSVAPSLATNASAAAFNPYLGPVSPSLVPAEILPTAPMLVTGNPGVPVPAAAAAAAQKLMRTDRLEVCREYQRGNCNRGENDCRFAHPADSTMIDTNDNTVTVCMDYIKGRCSREKCKYFHPPAHLQAKIKAAQYQVNQAAAAQAAATAAAMGIPQAVLPPLPKRPALEKTNGATAVFNTGIFQYQQALANMQLQQHTAFLPPGSILCMTPATSVVPMVHGATPATVSAATTSATSVPFAATATANQIPIISAEHLTSHKYVTQM","proteinLength":"Full Length","predictedMolecularWeight":"57 kDa","actualMolecularWeight":null,"aminoAcidEnd":382,"aminoAcidStart":1,"nature":"Recombinant","expressionSystem":"Escherichia coli","accessionNumber":"Q9NR56","tags":[]}]
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Properties and storage information

Shipped at conditions
Blue Ice
Appropriate short-term storage conditions
-20°C
Appropriate long-term storage conditions
-20°C
Aliquoting information
Upon delivery aliquot
Storage information
Avoid freeze / thaw cycle
False
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Supplementary information

This supplementary information is collated from multiple sources and compiled automatically.

The MBNL1 protein also known as Muscleblind-like protein 1 or MBNL1 is a RNA-binding protein with a molecular mass of approximately 38 kDa. This protein has a central role in the regulation of alternative splicing. It binds to specific RNA motifs and affects the splicing of pre-mRNA. MBNL1 is expressed widely in many tissues including skeletal and cardiac muscles as well as the brain indicating its wide-ranging importance in various cellular processes.
Biological function summary

The MBNL1 protein is involved in the regulation of mRNA metabolism. It functions not just individually but often as a part of larger ribonucleic complexes impacting RNA stability and translation. MBNL1 controls the alternative splicing of numerous transcripts which is necessary for the proper development and function of tissues. Disruptions in MBNL1 activity can lead to mis-splicing of transcripts which demonstrates the key role it plays in maintaining cellular homeostasis.

Pathways

The MBNL1 protein contributes significantly to splicing regulation and muscle-specific gene expression pathways. It interacts with proteins like CELF1 which modulate pre-mRNA processing. These pathways are vital for muscle cell differentiation and maintenance with MBNL1 acting alongside other splicing factors to ensure the correct expression patterns necessary for tissue-specific functions. The balance between MBNL1 and its interacting partners influences splicing outcomes and gene expression.

The dysregulation of MBNL1 activity is implicated in myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2). In these conditions expanded CUG or CCUG repeat RNAs sequester MBNL1 disrupting its function and leading to splicing abnormalities. Through this mechanism MBNL1 connects to other proteins like CUGBP1 which also influences splicing in muscle and other tissues. The resulting mis-splicing from impaired MBNL1 activity underlies many symptoms seen in these muscular disorders highlighting the protein's clinical relevance.
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Specifications

Form

Liquid

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General info

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. Together with RNA binding proteins RBPMS and RBFOX2, activates vascular smooth muscle cells alternative splicing events (PubMed : 37548402). Regulates NCOR2 alternative splicing (By similarity).

Sequence similarities

Belongs to the muscleblind family.

Subcellular localisation

Nucleus

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Product protocols

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Target data

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. Together with RNA binding proteins RBPMS and RBFOX2, activates vascular smooth muscle cells alternative splicing events (PubMed : 37548402). Regulates NCOR2 alternative splicing (By similarity).
See full target information MBNL1
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