Research TopicsGenomes and Genes
Species | Ush1gSummaryGene Symbol: Ush1g Description: USH1 protein network component sans Alias: Sans, Usher syndrome type-1G protein homolog, Usher syndrome 1G homolog, jackson shaker protein, scaffold protein containing ankyrin repeats and SAM domain, scaffold protein, amkyrin repeats and SAM domain containing, scaffold protein, ankyrin repeats and SAM domain containing Species: mouse Products: Ush1g Top Publications
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- Papal S, Cortese M, Legendre K, Sorusch N, Dragavon J, Sahly I, et al. The giant spectrin ?V couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route. Hum Mol Genet. 2013;22:3773-88 pubmed publisher..We showed that spectrin ?V also associates with two USH1 proteins, sans (USH1G) and harmonin (USH1C)...
- Zheng Q, Scarborough J, Zheng Y, Yu H, Choi D, Gillespie P. Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes. Hum Mol Genet. 2012;21:2588-98 pubmed publisher..We generated mice that were digenic heterozygotes for Myo7a(sh1-8J) and one of each Cdh23(v-2J), Ush1g(js) or Pcdh15(av-3J) alleles, or an Ush1c null allele...
- Grati M, Kachar B. Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction. Proc Natl Acad Sci U S A. 2011;108:11476-81 pubmed publisher..Using immunofluorescence, we now show that MYO7A and sans, a MYO7A-interacting protein, cluster at the UTLD...
- Jones S, Johnson K, Yu H, Erway L, Alagramam K, Pollak N, et al. A quantitative survey of gravity receptor function in mutant mouse strains. J Assoc Res Otolaryngol. 2005;6:297-310 pubmed..Spnb4qv-lnd2J, Spnb4qv-3J, Myo7ash1, Tmie(sr), Myo6sv, jc, Pcdh15av-J, Pcdh15av-2J, Pcdh15av-3J, Cdh23v-2J, Sans(js), hr, Kcne1pkr and Pou3f4del...
- El Amraoui A, Petit C. Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells. J Cell Sci. 2005;118:4593-603 pubmed..23 and protocadherin 15 (two cadherins with large extracellular regions), and the putative scaffolding protein Sans underlie five genetic forms of Usher syndrome type I (USH1), the most frequent cause of hereditary deafness-..
- Weil D, El Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Laine S, et al. 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. 2003;12:463-71 pubmed..We carried out fine mapping of USH1G (chromosome 17q24-25), restricting the location of this gene to an interval of 2...
- Jansen F, Kalbe B, Scholz P, Mikosz M, Wunderlich K, Kurtenbach S, et al. Impact of the Usher syndrome on olfaction. Hum Mol Genet. 2016;25:524-33 pubmed publisher..In summary, this study provides novel insights into the presence and purpose of the Usher proteins in olfactory signal transduction. ..
- Baus K, Knapp B, Jores P, Roepman R, Kremer H, Wijk E, et al. Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis. Hum Mol Genet. 2014;23:3923-42 pubmed publisher..as a new component of the USH protein interactome, binding to the multifunctional scaffold protein SANS (USH1G)...
- Hurle B, Ignatova E, Massironi S, Mashimo T, Rios X, Thalmann I, et al. Non-syndromic vestibular disorder with otoconial agenesis in tilted/mergulhador mice caused by mutations in otopetrin 1. Hum Mol Genet. 2003;12:777-89 pubmed..Otop1 and Otop1-like paralogues, Otop2 and Otop3, define a new gene family with homology to the C. elegans and D. melanoganster DUF270 genes...
- Caberlotto E, Michel V, Foucher I, Bahloul A, Goodyear R, Pepermans E, et al. Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia. Proc Natl Acad Sci U S A. 2011;108:5825-30 pubmed publisher..In this study we address the role of sans, a putative scaffold protein and product of the USH1G gene...
- Zallocchi M, Sisson J, Cosgrove D. Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells. Biochemistry. 2010;49:1236-47 pubmed publisher..This complex(es) is present primarily in transport vesicles at the apical pole of tracheal epithelial cells, predicting that Usher proteins may be directionally transported as complexes in hair cells and photoreceptors. ..
- Lefevre G, Michel V, Weil D, Lepelletier L, Bizard E, Wolfrum U, et al. A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth. Development. 2008;135:1427-37 pubmed publisher..Mutations in genes encoding myosin VIIa, harmonin, cadherin 23, protocadherin 15 or sans cause Usher syndrome type I (USH1, characterized by congenital deafness, vestibular dysfunction and retinitis ..
- Adato A, Michel V, Kikkawa Y, Reiners J, Alagramam K, Weil D, et al. Interactions in the network of Usher syndrome type 1 proteins. Hum Mol Genet. 2005;14:347-56 pubmedDefects in myosin VIIa, harmonin (a PDZ domain protein), cadherin 23, protocadherin 15 and sans (a putative scaffolding protein), underlie five forms of Usher syndrome type I (USH1)...
- Kikkawa Y, Shitara H, Wakana S, Kohara Y, Takada T, Okamoto M, et al. Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice. Hum Mol Genet. 2003;12:453-61 pubmed..of transcripts in an overlapping region of the two clones revealed a gene encoding a new scaffold-like protein, Sans, that showed mutations in the two js mutants...
- Zou J, Zheng T, Ren C, Askew C, Liu X, Pan B, et al. Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice. Hum Mol Genet. 2014;23:2374-90 pubmed publisher..GenBank accession numbers: KF041446, KF041447, KF041448, KF041449, KF041450, KF041451. ..
- Kitamura K, Yagi M, Yoshikawa Y, Ochidubo F, Kato M. Vestibular pathology in a new-mutant mouse. Acta Otolaryngol Suppl. 1991;481:121-4 pubmed..In contrast, the cristae ampullaris remained well preserved until the age of 18 months. The phenotype of the abnormal gene in these mutant mice correlates to the morphological abnormalities seen in the vestibule. ..
- Reiners J, Nagel Wolfrum K, Jürgens K, Märker T, Wolfrum U. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res. 2006;83:97-119 pubmed..proteins, cadherin 23 (USH1D) and protocadherin 15, (USH1F) and the scaffold proteins, harmonin (USH1C) and SANS (USH1G). In addition, two USH2 genes and one USH3A gene have been identified...
- Yan D, Kamiya K, Ouyang X, Liu X. Analysis of subcellular localization of Myo7a, Pcdh15 and Sans in Ush1c knockout mice. Int J Exp Pathol. 2011;92:66-71 pubmed publisher..Here, we examine the effects of null mutation of the Ush1c gene on subcellular localization of Myo7a, Pcdh15 and Sans in the inner ear...