pre-mRNA splicing regulator USH1G (also known as SANS) is a multifunctional scaffold protein. It regulates Magi2-mediated endocytosis []and interacts with MYO7A and USH1C []. Mice lacking USH1G exhibit a loss of tip-links, defects in stereocilia morphology and organization, loss of mechanotransduction currents, and perturbations to hearing and balance []. Mutations in human USH1G gene cause Usher syndrome 1G (USH1G), a genetically heterogeneous condition characterised by the association of retinitis pigmentosa with sensorineural deafness []. USH1G has an N-terminal ankyrin repeat region and a C-terminal SAM domain []. The SAM domain is a putative protein-protein interaction domain.
ANKS4B (also known as Harp) is part of the intermicrovillar adhesion complex (IMAC) and plays a role in epithelial brush border differentiation, controlling microvilli organization and length. It interacts with USH1C and MYO7B, which link protocadherins to the actin cytoskeleton []. In mouse epithelial tissues, HARP interacts with the PDZ domain of harmonin. This scaffolding complex facilitates signal transduction in epithelia []. ANKS4B has an N-terminal ankyrin repeat region and C-terminal SAM. This entry represents the SAM domain, which is a protein-protein interaction domain.
