Protein Name USH1 protein network component sans
Organism Homo sapiens
Gene ID 124590
Gene Symbol


UniProt Q495M9 (USH1G_HUMAN), B4DL95 (B4DL95_HUMAN)
Relationships Total Number of functionally related compound(s) : 189
Total Number of Articles : 211

USH1 protein network component sans

Gene 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]

  • pre-mRNA splicing regulator USH1G
  • Usher syndrome 1G (autosomal recessive)
  • scaffold protein containing ankyrin repeats and SAM domain
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