USH1G
Gene Information
- Official Symbol: USH1G
- Official Name: USH1 protein network component sans
- Aliases and Previous Symbols: N/A
- Entrez ID: 124590
- UniProt: Q495M9
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013].
- UniProt Summary: Required for normal development and maintenance of cochlear hair cell bundles. 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 hearing. {ECO:0000269|PubMed:21709241}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 6084
- Expression level (log2 read counts): -0.02
USH1G Expression in NALM6 Cells: -0.02
