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- Table of Contents
Facts about RNA-binding protein 20.
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Mouse | |
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Gene Name: | Rbm20 |
Uniprot: | Q3UQS8 |
Entrez: | 73713 |
Belongs to: |
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No superfamily |
RNA binding motif protein 20
Mass (kDA):
130.124 kDA
Mouse | |
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Location: | 19|19 D2 |
Sequence: | 19; |
Predominantly expressed in striated muscle, with highest expression in the heart. In differentiating myoblasts, expression correlates with sarcomere assembly: expression peaks when alpha-actinin is localized mainly in mature Z bodies within the nascent myofiber and expression declines as the sarcomeres continue to mature.
There are a few important points to remember when using an ELISA Kit. First, use concentrated antibodies. Next, choose the appropriate blocking buffer. Boster Bio's optimization guidelines and tips can help if you're still unsure of any aspect or method of ELISA. These guides can also answer any questions you might have about your ELISA experiments.
Optimisation of the RBM20 gene-marker system has many potential applications. This gene regulates transcription of several genes and can aid in tissue-specific, post transcriptional regulation. This gene can be used to diagnose some diseases. This research aims to identify the target gene and its associated protein sequence. It has been used in many applications in the field genetics, such as in the detection of cardiovascular disease.
Numerous studies have shown that RBM20 regulates alternative pre-mRNA expression of target genes. RBM20 is crucial for nuclear localization. RBM20 is also required to suppress the TTN gene which has the highest number of exons among mammals. The TTN gene encodes titin, a multifunctional, sarcomeric structural proteins.
The RBM20 gene was first identified in human hearts cells using extensive alternative splicing (Ttn mRNA). This gene is important in diastolic function and passive stiffness. Moreover, manipulation of the RBM20 marker has led to the identification of a potential therapeutic target. But, further studies are needed before the RBM20 genetic target can be characterized as a useful therapeutic target.
The RBM20 gene is a vertebrate RNA-binding protein with two zinc finger (ZnF) domains and a region of arginine/serine (RS)-rich RNA. RBM20 has been associated with dilated heart disease. It regulates the specific alternative splicing of the heart. Rbm20 mutant mice are born with defective genes, but do not display DCM-like phenotypes.
RNA-binding molecules bind to both single-stranded and dual-stranded RNA. They contain RNA-binding domains and motifs that are well-established for binding to RNA, but are reliant on contextual features to predict their targets. They are essential in all aspects of RNA biology. It is therefore not surprising the RBM20 genes is involved with a number research areas, such RNA binding protein biology.
The RBM20 gene has been detected in two HR-MDS mouse models. Both mouse models revealed that RBM20 was associated to BM cells with increased myeloid colony size. ABT737 does not target this specific complex, but it does impact the expressions of several downstream targets. ABT-737 is therefore not selectively targeted at RAS, but has the ability to decrease BCL-2 transcription and associated transcriptional activity.
Tbl1 (genetic marker) and RBM20 (genetic marker) are useful in detecting clogged pipes. RBM20 suppresses the exons 15, 16 and 17 of the Camk2d Gene and promotes the inclusion 14 These genes encode CaMKIId. Tbl1 regulates expression of Lim domain binding protein
These two markers are able to distinguish clogged drains from large amounts of debris. The RBM20 protein has three functional domains: the RRM1, RS, and Zn2+ fingers. The RRM20 domain has the closest relationship to the consensus sequence from the RRM1 genome, which is found in splicing factors PTB or nPTB. Additionally, both markers share high levels of homology.
RBM20's RRM20-SR domains and RBM20’s SR domains are responsible in part for the speckled nuclear distribution of the proteins. Green fluorescent protein was used to confirm that Rbm20 was located only in the nuclear region. The RRM20 protein was fused with green fluorescent protein (GFP) to study its localization in nuclei of mouse atrial myocytes (HL1) and C2C12 cells.
The RBM20 gene is associated with a variety of physiological processes and functions. It regulates potassium channel-gated potassium channels. These channels are crucial for controlling cardiac action potential and cellular exitability. The other genes, ANP and BNP, respond to changes in diuresis and natriuresis. These markers have a high correlation to chronic heart failure and can help predict mortality in human patients.
It is controlled through a highly conserved Glutamate residue in E-rich region. The E913K missense mutation decreases RBM20 protein levels and alters TTN splicing. Other missense mutations have been linked to sporadic heart disease, but not altered splicing. These are just a handful of examples of RBM20 being involved in heart-specific, alternative splicing.
The RBM20 gene is a marker for RNA binding proteins. This protein inhibits the removal of most introns located between exons 51 & 218. The UCUU core element, which is the exact RNA recognition motif of RBM20, is the UCUU core element. The marker has several binding sites within introns between exons 50 and 219, which are excluded in constitutively spliced regions. The wild-type rat heart retains most introns in this region.
Studies in 1998 and 2000 linked mutations in the RBM20 gene to DCM. These studies were limited because of the small control populations and low levels of population-level missense variations. RBM20 seems to have stronger associations with DCM than variants from the original hotspot. Nevertheless, further curation of this gene is needed to determine its significance in other regions.
The RBM20 gene can be used to identify the presence of cardiac progenitors. Its expression is tightly controlled by Nkx2-5 activity, which is a marker for cardiac progenitors. After day 9, differentiation in vitro, RBM20's expression levels rise. The transition between titin wasoforms was detected at day 24 of differentiation. This transition was stopped by Rbm20 knockdown.
The mutation that causes dilated cardiomyopathy has been characterized in humans in several studies. Its effects upon heart function are associated both with abnormal heart rate and cardiac deaths. Tokyo Medical and Dental University hoped to replicate this gene mutation on mice in order to test new drugs and therapies. These findings could have important implications for the future medicine. They will also enable researchers to better understand RNA-binding protein function and how it is regulated in heart.
The Boster database has the RBM20 marker. This is an important step towards identifying the genetic cause. Cardiomyopathies are leading causes of heart disease in the West and require transplantation. These diseases are genetically complex, with a large pleiotropy in the gene networks and lower penetrance in the families. Although many loci were identified, only a subset of patients have causal genes. Boster Bio's discovery of RBM20, a previously unidentified genetic phenotype, has opened the door to a new mechanism for cardiomyopathy.
The RBM20 protein encoded by the gene encodes a protein with associations with a -actinin binding or sarcomere organisation. RBM20 could also play a role in the coordinated regulation and activation of multiple proteins. Although RBM20 mutations have been associated with up to 15% human diseases, trans effects have only been seen in a few cases. Although the RBM20 genes has been a long-standing candidate in heart disease research, it is still important to understand its role within the cardiovascular system.
Rats with titin splice deficit have a genetic deletion that results in the loss of function for the SR-related proteins Rbm20. This gene family is highly conserved among metazoans. The arginine/serine rich domains are crucial for recruiting the splicing machine. These proteins are currently involved in the splicing of approximately half of them.
The RBP binding sites of the circRBM33-circCDYL genes are highly conserved and can be used to enhance the formation some circRNAs. In fact, the circRBM33 gene is completely covered with RBP binding sites, with no internal non-circ-exon. In contrast, the CDYL Host gene is moderately expressed by HepG2 cell. These factors may also influence the expression of CDYL host genes.
PMID: 22466703 by Guo W., et al. RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.