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Key Specifications Table
| Species Reactivity | Key Applications | Host | Format | Antibody Type |
|---|---|---|---|---|
| H, M, R | WB | Rb | Affinity Purified | Polyclonal Antibody |
| Description | |
|---|---|
| Catalogue Number | ABE241 |
| Description | Anti-MBNL1 Antibody |
| Alternate Names |
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| Background Information | Muscleblind 1 (MBNL1) is a member of the muscleblind family. MBNL1in involved in pre-mRNA alternative splicing and acts as either splicing activator or repressor on specific pre-mRNA targets. This protein contains four C3H1-type zinc fingers and binds to expanded CUG repeat RNA. High expression of MBNL1 has been observed in cardiac and skeletal muscle as well as in differentiating myoblasts. MBNL1 is known to be involved in the pathogenesis of dystrophia myotonica type 1 (DM1). For those afflicted with this muscular disorder, MBNL1 is sequestered by DMPK RNAs that contain CUG triplet repeat expansions. |
| Product Information | |
|---|---|
| Format | Affinity Purified |
| Control |
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| Presentation | Purified rabbit polyclonal in Tris-citrate containing 0.1% sodium azide. |
| Quality Level | MQ100 |
| Applications | |
|---|---|
| Application | Use Anti-MBNL1 Antibody (Rabbit Polyclonal Antibody) validated in WB to detect MBNL1 also known as muscleblind-like (Drosophila), Triplet-expansion RNA-binding protein. |
| Key Applications |
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| Biological Information | |
|---|---|
| Immunogen | Histidine-tagged recombinant protein corresponding to human MBNL1. |
| Concentration | Please refer to the Certificate of Analysis for the lot-specific concentration. |
| Host | Rabbit |
| Species Reactivity |
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| Antibody Type | Polyclonal Antibody |
| Entrez Gene Number |
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| Gene Symbol |
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| Purification Method | Affinity Purfied |
| UniProt Number |
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| UniProt Summary | 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-3consensus 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. SUBUNIT STRUCTURE: Interacts with DDX1 and YBX1. Interacts with HNRNPH1; the interaction in RNA-independent. SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cytoplasmic granule. Note: 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. TISSUE SPECIFICTY: 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. SEQUENCE CAUTION: The sequence BAA24858.2 differs from that shown. Reason: Erroneous initiation. |
| Molecular Weight | ~ 33-42 kDa observed. There are three known splice variants ranging from ~33 kDa to ~42 kDa. An uncharacterized band at ~ 80 kDa has been observed in some lysates. |
| Product Usage Statements | |
|---|---|
| Quality Assurance | Evaluated by Western Blot in A431 cell lysate. Western Blot Analysis: 1 µg/mL of this antibody detected MBNL1 on 10 µg of A431 cell lysate. |
| Usage Statement |
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| Storage and Shipping Information | |
|---|---|
| Storage Conditions | Stable for 1 year at 2-8°C from date of receipt. |
| Packaging Information | |
|---|---|
| Material Size | 100 µg |