pre-mRNA splicing regulator USH1G

Definition:

Plays a role in pre-mRNA splicing by regulating the release and transfer of U4/U6.U5 tri-small nuclear ribonucleoprotein (tri-snRNP) complexes from their assembly site in Cajal bodies to nuclear speckles, thereby contributing to the assembly of the pre-catalytic spliceosome on target pre-mRNAs. May also participate in recycling of snRNPs back to Cajal bodies during splicing. Plays a role in regulating MAGI2-mediated endocytosis. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles. Required for normal hearing.

References:

[1]. Katharina Bauß, et al. Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis. Hum Mol Genet. 2014 Aug 1;23(15):3923-42. [Content Brief]

[2]. Adem Yildirim, et al. SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes. Nucleic Acids Res. 2021 Jun 4;49(10):5845-5866. [Content Brief]

[3]. M'hamed Grati, et al. Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction. Proc Natl Acad Sci U S A. 2011 Jul 12;108(28):11476-81. [Content Brief]

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