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Gene Ontology Classifications
Symbol
Name
ID
Ush1g
Usher syndrome 1G
MGI:2450757

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GO curators for mouse genes have assigned the following annotations to the gene product of Ush1g. (This text reflects annotations as of Thursday, July 24, 2014.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of August 30, 2007. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text for additional MGI annotations
References
  1. Adato A et al. (2005) Interactions in the network of Usher syndrome type 1 proteins. Hum Mol Genet, 14:347-56. (PubMed:15590703)
  2. Kikkawa Y et al. (2003) Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice. Hum Mol Genet, 12:453-61. (PubMed:12588793)
  3. Kitamura K et al. (1992) Ultrastructural findings in the inner ear of Jackson shaker mice. Acta Otolaryngol (Stockh), 112:622-7. (PubMed:1442008)
  4. Kitamura K et al. (1991) An ultrastructural study on vestibular sensory cells in a new-mutant mouse. Acta Otolaryngol (Stockh), 111:1013-20. (PubMed:1763621)
  5. Kitamura K et al. (1991) Vestibular pathology in a new-mutant mouse. Acta Otolaryngol Suppl (Stockh), 481:121-4. (PubMed:1927362)
  6. Weil D et al. (2003) Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet, 12:463-71. (PubMed:12588794)



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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory