USH1G

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]

Description

USH1 protein network component sans

Tissue specificity

Tissue enhanced (esophagus)

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins

Chromosome

17 (74916083 - 74923256)

Ensembl ID

ENSG00000182040  (ver. 103.38)

Orthologs

Mouse Ush1g: ENSMUSG00000045288

UniProt

Q495M9

neXtProt

NX_Q495M9

Human splice variants
Mouse splice variants

Protein structure