RBM20 (aa717-727) Antibody (internal region)
Peptide-affinity purified goat antibody
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Application
| WB, E |
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Primary Accession | Q5T481 |
Other Accession | NP_001127835.1, 282996, 73713 (mouse), 309544 (rat) |
Reactivity | Mouse |
Predicted | Human, Rat, Cow |
Host | Goat |
Clonality | Polyclonal |
Concentration | 0.5 mg/ml |
Isotype | IgG |
Calculated MW | 134258 Da |
Gene ID | 282996 |
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Other Names | RNA-binding protein 20, RNA-binding motif protein 20, RBM20 |
Format | 0.5 mg/ml in Tris saline, 0.02% sodium azide, pH7.3 with 0.5% bovine serum albumin |
Storage | Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles. |
Precautions | RBM20 (aa717-727) Antibody (internal region) is for research use only and not for use in diagnostic or therapeutic procedures. |
Name | RBM20 {ECO:0000303|PubMed:22466703, ECO:0000312|HGNC:HGNC:27424} |
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Function | RNA-binding protein that acts as a regulator of mRNA splicing of a subset of genes encoding key structural proteins involved in cardiac development, such as TTN (Titin), CACNA1C, CAMK2D or PDLIM5/ENH (PubMed:22466703, PubMed:24960161, PubMed:27531932, PubMed:27496873, PubMed:26604136, PubMed:29895960, PubMed:30948719, PubMed:32840935, PubMed:35427468, PubMed:34732726). Acts as a repressor of mRNA splicing: specifically binds the 5'UCUU-3' motif that is predominantly found within intronic sequences of pre-mRNAs, leading to the exclusion of specific exons in target transcripts (PubMed:24960161, PubMed:30948719, PubMed:34732726). RBM20-mediated exon skipping is hormone-dependent and is essential for TTN isoform transition in both cardiac and skeletal muscles (PubMed:27531932, PubMed:30948719). RBM20- mediated exon skipping of TTN provides substrates for the formation of circular RNA (circRNAs) from the TTN transcripts (PubMed:27531932, PubMed:34732726). Together with RBM24, promotes the expression of short isoforms of PDLIM5/ENH in cardiomyocytes (By similarity). |
Cellular Location | Nucleus {ECO:0000255|PROSITE-ProRule:PRU00130, ECO:0000269|PubMed:23886709, ECO:0000269|PubMed:30262925, ECO:0000269|PubMed:32840935, ECO:0000269|PubMed:33188278, ECO:0000269|PubMed:34732726, ECO:0000269|PubMed:35427468}. Cytoplasm, Cytoplasmic ribonucleoprotein granule. Note=The active form that regulates alternative splicing localizes to the nucleus (PubMed:35427468, PubMed:33188278, PubMed:34732726). Also localizes to cytoplasmic ribonucleoprotein granules; localization to cytoplasmic ribonucleoprotein granules plays an important regulatory role (PubMed:35427468, PubMed:33188278, PubMed:34732726). Subcellular localization is regulated by phosphorylation of different parts of the protein: while phosphorylation of the RS (arginine/serine-rich) region promotes nuclear localization, phosphorylation of the C-terminal disordered region promotes localization to cytoplasmic ribonucleoprotein granules (PubMed:35427468) |
Tissue Location | Mainly expressed in the heart (PubMed:19712804, PubMed:23886709). Also expressed in skeletal muscle tissues, ovary, small intestine and colon (PubMed:23886709) |
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Provided below are standard protocols that you may find useful for product applications.
References
Identification of novel mutations in RBM20 in patients with
dilated cardiomyopathy. Li D, Morales A, Gonzalez-Quintana J, Norton N, Siegfried JD, Hofmeyer M,
Hershberger RE. Clin Transl Sci. 2010 Jun;3(3):90-7. PMID: 20590677
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