Proteins/UNIPROT:Q5T481

RBM20

ProteinUNIPROT:Q5T481

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. 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. RBM20-mediated exon skipping is hormone-dependent and is essential for TTN isoform transition in both cardiac and skeletal muscles. RBM20-mediated exon skipping of TTN provides substrates for the formation of circular RNA (circRNAs) from the TTN transcripts. Together with RBM24, promotes the expression of short isoforms of PDLIM5/ENH in cardiomyocytes (By similarity)..

Function from UniProtKB (Q5T481), read 2026-09-23. CC BY 4.0.

Curated compounds routed: 0

What the reference databases state

GenCC submitters' classifications

3 rows

dilated cardiomyopathy has a germline basis in RBM20DiseaseGenCC HGNC:27424|MONDO:0005021Inferred only
dilated cardiomyopathy 1DD has a germline basis in RBM20DiseaseGenCC HGNC:27424|MONDO:0013168Inferred only
familial isolated dilated cardiomyopathy has a germline basis in RBM20DiseaseGenCC HGNC:27424|MONDO:0700335Inferred only

Statements

7 statements

7 statements · 2 reference databases · Subject: RBM20 · Sources: gene ontology, Hetionet

Order

CAPN1 covaries with RBM20ProteinHetionet hetionet:covaries:282996-823Inferred only
FBXL6 covaries with RBM20ProteinHetionet hetionet:covaries:26233-282996Inferred only
ZNF41 covaries with RBM20ProteinHetionet hetionet:covaries:282996-7592Inferred only
RBM20 regulates negative regulation of mRNA splicing, via spliceosomeBiological processgene ontology Q5T481|GO:0048025Inferred only
RBM20 regulates positive regulation of RNA splicingBiological processgene ontology Q5T481|GO:0033120Inferred only
RBM20 regulates regulation of alternative mRNA splicing, via spliceosomeBiological processgene ontology Q5T481|GO:0000381Inferred only
RBM20 regulates regulation of mRNA splicing, via spliceosomeBiological processgene ontology Q5T481|GO:0048024Inferred only

Other names

2 names

Resolves to: RBM20

Also called: RNA-binding motif protein 20RNA-binding protein 20

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