MBNL1
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Muscleblind Like Splicing Regulator 1 (MBNL1) is an RNA splicing protein that in humans is encoded by the MBNL1 gene.[5][6][7] It has a well characterized role in Myotonic dystrophy where impaired splicing disrupts muscle development and function.[8] In addition to regulating mRNA maturation of hundreds of genes MBNL1 (along with its paralogs MBNL2 & MBNL3) autoregulate alternative splicing of the MBNL1 pre-mRNA transcript.[9] The founding member of the human MBNL family of proteins was the Drosophila Muscleblind protein (PMID 9334280).
Human MBNL1 is an alternative splicing regulator that harbors dual function as both a repressor and activator for terminal muscle differentiation.[10] The repressive function of Human MBNL1 by sequestering at normal splice sites has been shown to lead to RNA-splicing defects that lead to muscular diseases.[11] The gene can be alternatively spliced into multiple functionally distinct isoforms, some of which linked to be involved in cancer biology.[12]
Human MBNL1 is a 370 amino acid protein[13] composed of four Zinc Finger protein domains of the CCCH type linked in tandem.[10] The MBNL1 protein specifically binds to double stranded CUG RNA expansions.[14] The Zinc Finger domains play a role in both protein:protein contacts as well as RNA:protein contacts when bound to an oligonucleotide.[10]