Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Ush1g. (This text reflects annotations as of Wednesday, January 23, 2013.) 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.

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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). [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Ush1g
  • is located in the following cellular components:
    • actin cytoskeleton ^[6]
    • cytoplasm ^[1]
• The gene product of Ush1g has been shown to bind to the gene products of Myo7a, Ush1c. ^[1] Researchers have inferred, based on physical interactions, that the gene product of Ush1g
  • performs the following molecular functions:
    • protein homodimerization activity ^[1]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Ush1g
  • participates in the following biological processes:
    • inner ear morphogenesis ^{[2, 5]}
    • inner ear receptor cell differentiation ^{[2, 3, 4, 5]}
    • sensory perception of sound ^{[2, 5]}

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Ush1g:
  • participates in the following biological processes:
    • equilibrioception
    • photoreceptor cell maintenance
    • sensory perception of light stimulus
    • sensory perception of sound
  • is located in the following cellular components:
    • membrane

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Ush1g indicates that it:
  • is located in the following cellular components:
    • cytoskeleton
    • plasma membrane

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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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