MBNL1

3D2N, 3D2Q, 3D2S415456758ENSG00000152601ENSMUSG00000027763Q9NR56Q86VM6Q9JKP5NM_207295NM_207296NM_207297NM_001363870NM_020007NM_001310514NP_997178NP_997179NP_997180NP_001350799NP_001300986.1NP_997178.1NP_997179.1NP_997180.1NP_001297443NP_064391Muscleblind-like (Drosophila), also known as MBNL1, is a protein that in humans is encoded by the MBNL1 gene. It has been implicated in Myotonic dystrophy and has been shown to autoregulate its transcript. Muscleblind-like (Drosophila), also known as MBNL1, is a protein that in humans is encoded by the MBNL1 gene. It has been implicated in Myotonic dystrophy and has been shown to autoregulate its transcript. Human MBNL1 is an alternative splicing regulator that harbors dual function as both a repressor and activator for terminal muscle differentiation. 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. Human MBNL1 is a 370 amino acid proteincomposed of four Zinc Finger protein domains of the CCCH type linked in tandem. The MBNL1 protein specifically binds to double stranded CUG RNA expansions. The Zinc Finger domains play a role in both protein:protein contacts as well as RNA:protein contacts when bound to an oligonucleotide.