Abcam, ab114825, Recombinant Human MBNL1 protein

Size: 10µg
Recombinant Human MBNL1 protein is a Human Full Length protein, in the 1 to 343 aa range, expressed in Wheat germ, suitable for SDS-PAGE, ELISA, WB.
Key facts
Expression system:Wheat germ,
Tags:GST tag N-Terminus,
Applications:SDS-PAGE, WB, ELISASee reactivity dataSee the reactivity data table below for information on validated species and application combinations.,
Biologically active:No,
Accession:Q9NR56,
Animal free:No,
Carrier free:No,
Species:Human,
Storage buffer:pH: 8Constituents: 0.79% Tris HCl, 0.3% Glutathione

Product details:
This product was previously labelled as Muscleblind-like 1.

Properties and Storage Information:
Shipped at conditions-Dry Ice, Appropriate short-term storage conditions--80°C, Appropriate long-term storage conditions--80°C, Aliquoting information-Upon delivery aliquot, Storage information-Avoid freeze / thaw cycle

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.