This gene encodes a protein that likely binds RNA. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Mar 2010]
Function:
RNA-binding protein that acts as a regulator of mRNA splicing of a subset of genes involved in cardiac development. Regulates splicing of TTN (Titin).
Subcellular Location:
Nucleus (By similarity).
Tissue Specificity:
Expressed in the heart.
DISEASE:
Defects in RBM20 are the cause of cardiomyopathy dilated type 1DD (CMD1DD) [MIM:613172]. A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Similarity:
Contains 1 RRM (RNA recognition motif) domain.
SWISS:
Q5T481
Gene ID:
282996
Database links:
Entrez Gene: 282996 Human
Entrez Gene: 73713 Mouse
Entrez Gene: 309544 Rat
Omim: 613171 Human
SwissProt: Q5T481 Human
SwissProt: Q3UQS8 Mouse
Unigene: 92105 Cow
Unigene: 116630 Human
Unigene: 726550 Human
Unigene: 485879 Mouse
Unigene: 21596 Rat
Involvement in disease;Defects in RBM20 are the cause of cardiomyopathy dilated type 1DD (CMD1DD). A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
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Sample: heart (mouse) Lysate at 40 ug
Primary: Anti- RBM20 (SL9606R)at 1/300 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 75kD
Observed band size: 75 kD
Sample:
K562(Human) Cell Lysate at 30 ug
A549(Human) Cell Lysate at 30 ug
Primary: Anti- RBM20 (SL9606R) at 1/1000 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 134 kD
Observed band size: 130 kD
Tissue/cell: mouse embryo tissue; 4% Paraformaldehyde-fixed and paraffin-embedded;
Antigen retrieval: citrate buffer ( 0.01M, pH 6.0 ), Boiling bathing for 15min; Block endogenous peroxidase by 3% Hydrogen peroxide for 30min; Blocking buffer (normal goat serum,SLC0005) at 37℃ for 20 min;
Incubation: Anti-RBM20 Polyclonal Antibody, Unconjugated(SL9606R) 1:200, overnight at 4°C, followed by conjugation to the secondary antibody(SP-0023) and DAB(SLC0010) staining
Blank control（black line）:A549.
Primary Antibody (green line): Rabbit Anti-RBM20 antibody (SL9606R)
Dilution:1ug/Test;
Secondary Antibody（white blue line）: Goat anti-rabbit IgG-AF488
Dilution: 0.5ug/Test.
Isotype control（orange line）: Normal Rabbit IgG
Protocol
The cells were fixed with 4% PFA (10min at room temperature)and then permeabilized with 90% ice-cold methanol for 20 min at -20℃, The cells were then incubated in 5%BSA to block non-specific protein-protein interactions for 30 min at room temperature .Cells stained with Primary Antibody for 30 min at room temperature. The secondary antibody used for 40 min at room temperature. Acquisition of 20,000 events was performed.
Blank control:A549.
Primary Antibody (green line): Rabbit Anti-RBM20 antibody (SL9606R)
Dilution: 1μg /10^6 cells;
Isotype Control Antibody (orange line): Rabbit IgG .
Secondary Antibody : Goat anti-rabbit IgG-PE
Dilution: 3μg /test.
Protocol
The cells were fixed with 4% PFA (10min at room temperature)and then permeabilized with 90% ice-cold methanol for 20 min at-20℃. The cells were then incubated in 5% BSA to block non-specific protein-protein interactions for 30 min at at room temperature .Cells stained with Primary Antibody for 30 min at room temperature. The secondary antibody used for 40 min at room temperature. Acquisition of 20,000 events was performed.
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