Gene Symbol: Ush1c
Description: USH1 protein network component harmonin
Alias: harmonin, Usher syndrome 1C homolog, harmonin a1
Species: rat
Products:     Ush1c

Top Publications

  1. Verpy E, Leibovici M, Zwaenepoel I, Liu X, Gal A, Salem N, et al. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet. 2000;26:51-5 pubmed
    ..We identified this gene (USH1C), encoding a PDZ-domain-containing protein, harmonin, in a subtracted mouse cDNA library derived from inner ear sensory areas...
  2. Ahmed Z, Bernstein S, Ahmed Z, Khan S, Griffith A, Morell R, et al. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet. 2001;69:25-34 pubmed
    ..A Northern blot probed with the PCDH15 cytoplasmic domain showed expression in the retina, consistent with its pathogenetic role in the retinitis pigmentosa associated with USH1F. ..
  3. Ouyang X, Xia X, Verpy E, Du L, Pandya A, Petit C, et al. Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. Hum Genet. 2002;111:26-30 pubmed
    ..USH1C encodes a PDZ-domain-containing protein, harmonin. Eight different Ush1c transcripts were identified in the mouse inner ear...
  4. Ebermann I, Lopez I, Bitner Glindzicz M, Brown C, Koenekoop R, Bolz H. Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population. Genome Biol. 2007;8:R47 pubmed
    ..Of these cases, 60% carried mutations of the USH1C gene, a genetic subtype that is rare outside the Acadian population. We have discovered a founder effect of the c...
  5. Zwaenepoel I, Verpy E, Blanchard S, Meins M, Apfelstedt Sylla E, Gal A, et al. Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis. Hum Mutat. 2001;17:34-41 pubmed
    ..MYO7A, encoding the unconventional myosin VIIA, underlies USH1B. Recently, the USH1C gene was shown to encode harmonin, a PDZ domain-containing protein...
  6. Saihan Z, Stabej P, Robson A, Rangesh N, Holder G, Moore A, et al. Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss. Retina. 2011;31:1708-16 pubmed publisher
    ..Direct DNA sequencing of the USH1C gene was performed in two affected siblings...
  7. Boëda B, El Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, et al. Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J. 2002;21:6689-99 pubmed
    ..Deaf-blindness in three distinct genetic forms of Usher type I syndrome (USH1) is caused by defects in myosin VIIa, harmonin and cadherin 23...
  8. Scanlan M, Williamson B, Jungbluth A, Stockert E, Arden K, Viars C, et al. Isoforms of the human PDZ-73 protein exhibit differential tissue expression. Biochim Biophys Acta. 1999;1445:39-52 pubmed
    ..The existence of multiple PDZ-73 isoforms with variations in tissue distribution, PDZ domains, protein degradation sequences and carboxyl terminal structure indicate that these isoforms have distinct tissue-specific functions. ..
  9. Lentz J, Gordon W, Farris H, MacDonald G, Cunningham D, Robbins C, et al. Deafness and retinal degeneration in a novel USH1C knock-in mouse model. Dev Neurobiol. 2010;70:253-67 pubmed publisher
    ..Using the c.216G>A cryptic splice site mutation in Exon 3 of the USH1C gene found in Acadian Usher I patients in Louisiana, we constructed the first mouse model that develops both ..

More Information


  1. 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, ..
  2. Crawley S, Weck M, Grega Larson N, Shifrin D, Tyska M. ANKS4B Is Essential for Intermicrovillar Adhesion Complex Formation. Dev Cell. 2016;36:190-200 pubmed publisher
    ..ANKS4B interacts with USH1C and MYO7B, which link protocadherins to the actin cytoskeleton...
  3. Lentz J, Jodelka F, Hinrich A, McCaffrey K, Farris H, Spalitta M, et al. Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness. Nat Med. 2013;19:345-50 pubmed publisher
    ..An antisense oligonucleotide (ASO) was used to correct defective pre-mRNA splicing of transcripts from the USH1C gene with the c...
  4. 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
    ..The scaffold protein harmonin (USH1C) was shown to integrate all identified USH1 and USH2 molecules into protein networks...
  5. 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
    Mutations in the triple PDZ domain-containing protein harmonin have been identified as the cause of Usher deafness syndrome type 1C. Independently, we identified harmonin in a screen for genes expressed in pancreatic beta cells...
  6. Tian C, Liu X, Han F, Yu H, Longo Guess C, Yang B, et al. Ush1c gene expression levels in the ear and eye suggest different roles for Ush1c in neurosensory organs in a new Ush1c knockout mouse. Brain Res. 2010;1328:57-70 pubmed publisher
    ..of the inner ear and in photoreceptor cells of the retina via binding to PDZ domains in the scaffold protein harmonin encoded by the Ush1c gene in mice and humans...
  7. McConnell R, Benesh A, Mao S, Tabb D, Tyska M. Proteomic analysis of the enterocyte brush border. Am J Physiol Gastrointest Liver Physiol. 2011;300:G914-26 pubmed publisher
    ..These results provide a foundation for future studies aimed at defining the molecular mechanisms underpinning brush border assembly and function. ..
  8. Reiners J, Reidel B, El Amraoui A, Boëda B, Huber I, Petit C, et al. Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells. Invest Ophthalmol Vis Sci. 2003;44:5006-15 pubmed
    ..Previous studies have shown that the USH1-proteins myosin VIIa, harmonin, and cadherin 23 interact and form a functional network during hair cell differentiation in the inner ear...
  9. Crawley S, Shifrin D, Grega Larson N, McConnell R, Benesh A, Mao S, et al. Intestinal brush border assembly driven by protocadherin-based intermicrovillar adhesion. Cell. 2014;157:433-446 pubmed publisher
    ..The cytoplasmic domains of microvillar protocadherins interact with the scaffolding protein, harmonin, and myosin-7b, which promote localization to microvillar tips...
  10. Reiners J, Van Wijk E, Märker T, Zimmermann U, Jürgens K, te Brinke H, et al. Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum Mol Genet. 2005;14:3933-43 pubmed
    ..We and others recently reported that the scaffold protein harmonin (USH1C-gene product) integrates all identified USH1 molecules in a USH1-protein network...
  11. Savas S, Frischhertz B, Batzer M, Deininger P, Keats B. Structure, diversity, and evolution of the 45-bp VNTR in intron 5 of the USH1C gene. Genomics. 2004;83:439-44 pubmed
    ..recessive sensorineural disorder caused by mutations in the USH1C gene, which encodes a PDZ-domain protein named harmonin. The Acadian-specific 216G-->A mutation in exon 3 and a variant 9-repeat VNTR allele (designated VNTR(t,t)) in ..
  12. Khateb S, Zelinger L, Ben Yosef T, Merin S, Crystal Shalit O, Gross M, et al. Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss. PLoS ONE. 2012;7:e51566 pubmed publisher
    ..1220delG) leading to a frameshift (p.Gly407Glufs*56) in an alternative exon (#15) of USH1C. Screening of additional Yemenite Jewish patients revealed a total of 16 homozygous RP patients (with a carrier ..
  13. Gillespie P, Muller U. Mechanotransduction by hair cells: models, molecules, and mechanisms. Cell. 2009;139:33-44 pubmed publisher
  14. Hirai A, Tada M, Furuuchi K, Ishikawa S, Makiyama K, Hamada J, et al. Expression of AIE-75 PDZ-domain protein induces G2/M cell cycle arrest in human colorectal adenocarcinoma SW480 cells. Cancer Lett. 2004;211:209-18 pubmed
    ..Since PP2AC is known to regulate G2/M checkpoint, we suggest that AIE-75 interacts with PP2AC and prevent cells to transit mitotic phase. ..
  15. Wright A, Chakarova C, Abd El Aziz M, Bhattacharya S. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nat Rev Genet. 2010;11:273-84 pubmed publisher
    ..Although genetic and mechanistic diversity creates challenges for therapy, some approaches--particularly gene-replacement therapy--are showing considerable promise. ..
  16. Kazmierczak P, Muller U. Sensing sound: molecules that orchestrate mechanotransduction by hair cells. Trends Neurosci. 2012;35:220-9 pubmed publisher
    ..We review here recent studies that have both identified some of these molecules and established the mechanisms by which they regulate the activity of the still-elusive mechanotransduction channel. ..
  17. Lelli A, Michel V, Boutet de Monvel J, Cortese M, Bosch Grau M, Aghaie A, et al. Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth. J Cell Biol. 2016;212:231-44 pubmed publisher
  18. Johnson K, Gagnon L, Webb L, Peters L, Hawes N, Chang B, et al. Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene. Hum Mol Genet. 2003;12:3075-86 pubmed
    ..b>Harmonin, the protein encoded by Ush1c, has been shown to bind, by means of its PDZ-domains, with the products of other ..