FEATURES

DESCRIPTION

Also known as RBM20_HUMAN, RBM20. 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). Associates with components of the U1 and U2 U1 small nuclear ribonucleoprotein complexes.

EXTERNAL LINKS

RBM20

RNA-binding protein 20

RBM20

Molecular Synopsis