Gene 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

  1. Kitamura K, Kakoi H, Yoshikawa Y, Ochikubo F. Ultrastructural findings in the inner ear of Jackson shaker mice. Acta Otolaryngol. 1992;112:622-7 pubmed
    ..Therefore, future studies can provide additional information on the cytodifferentiation of the stereocilia as a function of the gene on chromosome 11. ..
  2. Yoo S, Pennesi M, Weeber E, Xu B, Atkinson R, Chen S, et al. SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. Neuron. 2003;37:383-401 pubmed
    ..These data demonstrate that glutamine expansion stabilizes mutant ataxin-7, provide an explanation for selective neuronal vulnerability, and show that mutant ataxin-7 impairs posttetanic potentiation (PTP). ..
  3. Zou J, Chen Q, Almishaal A, Mathur P, Zheng T, Tian C, et al. The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells. Hum Mol Genet. 2017;26:624-636 pubmed publisher
    ..The four USH2 proteins also interact in vitro with USH1 proteins including myosin VIIa, USH1G (SANS), CIB2 and harmonin...
  4. Miyasaka Y, Shitara H, Suzuki S, Yoshimoto S, Seki Y, Ohshiba Y, et al. Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23. Hum Mol Genet. 2016;25:2045-2059 pubmed
    ..Jackson shaker (Ush1gjs) is a mouse model of recessive deafness that exhibits congenital profound deafness caused by the ..
  5. Overlack N, Kilic D, Bauss K, Märker T, Kremer H, Van Wijk E, et al. Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina. Biochim Biophys Acta. 2011;1813:1883-92 pubmed publisher
    ..We have previously shown that the USH1G protein SANS (scaffold protein containing ankyrin repeats and SAM domain) contributes to the periciliary protein network in retinal photoreceptor cells...
  6. Johnston A, Naselli G, Niwa H, Brodnicki T, Harrison L, Gonez L. Harp (harmonin-interacting, ankyrin repeat-containing protein), a novel protein that interacts with harmonin in epithelial tissues. Genes Cells. 2004;9:967-82 pubmed
    ..Sequences with similarity to harp include the sans gene, mutations of which are responsible for deafness in the Jackson shaker 2 (js) mutant mouse and in human Usher ..
  7. Verpy E, Leibovici M, Michalski N, Goodyear R, Houdon C, Weil D, et al. Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane. J Comp Neurol. 2011;519:194-210 pubmed publisher
    ..We conclude that stereocilin is essential to the formation of horizontal top connectors. We propose that these links, which maintain the cohesiveness of the mature OHC hair bundle, are required for tip-link turnover. ..
  8. Maerker T, Van Wijk E, Overlack N, Kersten F, McGee J, Goldmann T, et al. A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum Mol Genet. 2008;17:71-86 pubmed
    ..Here, we analyzed a protein network organized in the absence of harmonin by the scaffold proteins SANS (USH1G) and whirlin (USH2D)...
  9. Kitamura K, Yoshikawa Y, Ochikubo F. An ultrastructural study on vestibular sensory cells in a new-mutant mouse. Acta Otolaryngol. 1991;111:1013-20 pubmed
    ..Because no morphological abnormality was observed in the central nervous system, the abnormal behavior in these mice was primarily correlated with morphological abnormalities of the vestibule. ..

More Information


  1. 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)...
  2. 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...
  3. 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...
  4. 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...
  5. 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-..
  6. 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...
  7. 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. ..
  8. 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 a new component of the USH protein interactome, binding to the multifunctional scaffold protein SANS (USH1G)...
  9. Cosgrove D, Zallocchi M. Usher protein functions in hair cells and photoreceptors. Int J Biochem Cell Biol. 2014;46:80-9 pubmed publisher
  10. 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...
  11. 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...
  12. 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. ..
  13. 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 ..
  14. 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 pubmed
    Defects 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)...
  15. 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...
  16. 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. ..
  17. 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. ..
  18. 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...
  19. 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...