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Gene Review

Ush1c  -  Usher syndrome 1C

Mus musculus

Synonyms: 2010016F01Rik, Harmonin, PDZ domain-containing protein, Usher syndrome type-1C protein homolog, harmonin
 
 
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High impact information on Ush1c

  • Here we show that harmonin, a PDZ domain-containing protein, and cadherin 23 are both present in the growing stereocilia and that they bind to each other [1].
  • Whirlin, a PDZ domain-containing protein, is expressed at stereocilia tips and, by virtue of mutations in the whirlin gene, is known to play a key role in stereocilia development [2].
  • The Ush1c mutant mice described here provide a means to directly investigate these interactions in vivo and to evaluate gene structure-function relationships that affect inner ear and eye phenotypes [3].
  • The Ush1c gene contains 28 exons, 20 that are constitutive and eight that are alternatively spliced [3].
  • Prior studies have indicated a requirement for the PDZ domain-containing protein, Na(+)/H(+) Exchanger Regulatory Factor (NHERF), for protein kinase A (PKA)-mediated inhibition of the renal basolateral Na(+)-HCO(3)(-) co-transporter (NBC) [4].
 

Anatomical context of Ush1c

  • The enrichment of harmonin in the photoreceptor synapses indicates that this protein may form multiple complexes with others to maintain the synaptic structure or to mediate in the release of synaptic vesicles [5].

References

  1. Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. Boëda, B., El-Amraoui, A., Bahloul, A., Goodyear, R., Daviet, L., Blanchard, S., Perfettini, I., Fath, K.R., Shorte, S., Reiners, J., Houdusse, A., Legrain, P., Wolfrum, U., Richardson, G., Petit, C. EMBO J. (2002) [Pubmed]
  2. Whirlin complexes with p55 at the stereocilia tip during hair cell development. Mburu, P., Kikkawa, Y., Townsend, S., Romero, R., Yonekawa, H., Brown, S.D. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  3. Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene. Johnson, K.R., Gagnon, L.H., Webb, L.S., Peters, L.L., Hawes, N.L., Chang, B., Zheng, Q.Y. Hum. Mol. Genet. (2003) [Pubmed]
  4. Essential role for NHERF in cAMP-mediated inhibition of the Na+-HCO3- co-transporter in BSC-1 cells. Weinman, E.J., Evangelista, C.M., Steplock, D., Liu, M.Z., Shenolikar, S., Bernardo, A. J. Biol. Chem. (2001) [Pubmed]
  5. Roles and interactions of usher 1 proteins in the outer retina. Lillo, C., Kitamoto, J., Williams, D.S. Adv. Exp. Med. Biol. (2006) [Pubmed]
 
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