Human MBNL1/Muscleblind-Like Protein 1 ELISA Kit | MBNL1 elisa kit

Human MBNL1/Muscleblind-Like Protein 1 ELISA Kit

Cat. Num. AAA2890313

• Gene Names: MBNL1; EXP; MBNL
• Reactivity: Human
• Synonyms: MBNL1/Muscleblind-Like Protein 1; Human MBNL1/Muscleblind-Like Protein 1 ELISA Kit; Muscleblind-like protein 1; Triplet-expansion RNA-binding protein; EXP; KIAA0428; MBNL; MBNL1 elisa kit

• Reactivity: Human
• Specificity: Recombinant and natural Human Muscleblind-like protein 1
• Sequence Length: 382

• Samples: Serum, plasma, tissue homogenates, cell culture supernates or other biological fluids
• Detection Range: 0.312-20 ng/mL
• Sensitivity: < 0.139 ng/mL
• Intra-assay Precision: <=5.5%
• Inter-assay Precision: <=8.4%
• Preparation and Storage: For long term storage, please store the entire kit at -20 degree C.

Typical Testing Data/Standard Curve (for reference only)

Related Product Information for MBNL1 elisa kit

Intended Uses: This immunoassay kit allows for the in vitro quantitative determination of target antigen concentrations in serum, plasma, tissue homogenates, cell culture supernates or other biological fluids.

Principle of the Assay: The microtiter plate provided in this kit has been pre-coated with an antibody specific to target antigen. Standards or samples are then added to the appropriate microtiter plate wells with a biotin-conjugated antibody preparation specific for target antigen and then avidin conjugated to Horseradish Peroxidase (HRP) is added to each microplate well and incubated. Then a TMB substrate solution is added to each well. Only those wells that contain target antigen, biotin-conjugated antibody and enzyme-conjugated Avidin will exhibit a change in color. The enzyme-substrate reaction is terminated by the addition of a sulphuric acid solution and the color change is measured spectrophotometrically at a wavelength of 450 nm +/- 2 nm. The concentration of target antigen in the samples is then determined by comparing the O.D. of the samples to the standard curve.

NCBI and Uniprot Product Information

• NCBI GI #: 41281591
• NCBI GeneID: 4154
• NCBI Accession #: NP_066368.2
• NCBI GenBank Nucleotide #: NM_021038.4
• UniProt Accession #: Q9NR56
• NCBI Official Full Name: muscleblind-like protein 1 isoform a
• NCBI Official Synonym Full Names: muscleblind like splicing regulator 1
• NCBI Official Symbol: MBNL1
• NCBI Official Synonym Symbols: EXP; MBNL
• NCBI Protein Information: muscleblind-like protein 1
• UniProt Protein Name: Muscleblind-like protein 1
• Protein Family: Muscleblind-like protein
• UniProt Gene Name: MBNL1
• UniProt Synonym Gene Names: EXP; KIAA0428; MBNL
• UniProt Entry Name: MBNL1_HUMAN

NCBI Description

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]

Uniprot Description

MBNL1: 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. Plays a role in the pathogenesis of dystrophia myotonica type 1 (DM1). A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias. 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. Belongs to the muscleblind family. 6 isoforms of the human protein are produced by alternative splicing.

Protein type: RNA-binding; RNA splicing

Chromosomal Location of Human Ortholog: 3q25

Cellular Component: nucleoplasm; centrosome; stress granule; cytoplasm; nucleus

Molecular Function: protein binding; RNA binding; metal ion binding; double-stranded RNA binding

Biological Process: alternative nuclear mRNA splicing, via spliceosome; myoblast differentiation; mRNA splice site selection; nervous system development; skeletal muscle development; in utero embryonic development; regulation of RNA splicing; RNA splicing; regulation of alternative nuclear mRNA splicing, via spliceosome; embryonic limb morphogenesis