Usher syndrome type-1G protein; scaffold protein containing ankyrin repeats & SAM domain (USH1G, SANS)

Function

• development & maintenance of the stereocilia bundles (putative)
• anchoring/scaffolding protein in hair cells (putative)
• functional network formed by USH1C, USH1G, CDH23 & MYO7A mediates mechanotransduction in cochlear hair cells required for normal hearing
• associates with USH1C by binding to its first PDZ domain
• interacts with PDZD7

Structure

• contains 3 ANK repeats
• contains 1 SAM (sterile alpha motif) domain

Compartment

• cytoplasm, cytoskeleton
• cell membrane
• detected at the tip of cochlear hair cell stereocilia
• recruited to the cell membrane via interaction with CDH23

Expression

• expressed in vestibule of the inner ear, eye, small intestine

Pathology

• defects in USH1G are the cause of Usher syndrome type 1G

More general terms

• scaffold protein
• ankyrin repeat domain protein (ANKRD)
• sterile alpha motif domain-containing protein (SAMD)

Additional terms

• Usher syndrome
• Usher syndrome type IG

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=124590
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:124590
• OMIM: https://mirror.omim.org/entry/276900
• OMIM: https://mirror.omim.org/entry/606943
• OMIM: https://mirror.omim.org/entry/607696
• UniProt: http://www.uniprot.org/uniprot/Q495M9.html