USH1C

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Usher syndrome 1C (autosomal recessive, severe)
Protein USH1C PDB 1v6b.png
PDB rendering based on 1v6b.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols USH1C ; AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst
External IDs OMIM605242 MGI1919338 HomoloGene77476 GeneCards: USH1C Gene
RNA expression pattern
PBB GE USH1C 211184 s at tn.png
PBB GE USH1C 205137 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 10083 72088
Ensembl ENSG00000006611 ENSMUSG00000030838
UniProt Q9Y6N9 Q9ES64
RefSeq (mRNA) NM_005709 NM_001163733
RefSeq (protein) NP_005700 NP_001157205
Location (UCSC) Chr 11:
17.52 – 17.57 Mb
Chr 7:
46.2 – 46.24 Mb
PubMed search [1] [2]

Harmonin is a protein that in humans is encoded by the USH1C gene.[1][2][3]


Interactions[edit]

USH1C has been shown to interact with CDH23.[4][5]

References[edit]

  1. ^ Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C (October 2000). "A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C". Nat Genet 26 (1): 51–5. doi:10.1038/79171. PMID 10973247. 
  2. ^ Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PS, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER (July 2002). "Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC". Hum Genet 110 (6): 527–31. doi:10.1007/s00439-002-0732-4. PMID 12107438. 
  3. ^ "Entrez Gene: USH1C Usher syndrome 1C (autosomal recessive, severe)". 
  4. ^ Boëda, Batiste; El-Amraoui Aziz, Bahloul Amel, Goodyear Richard, Daviet Laurent, Blanchard Stéphane, Perfettini Isabelle, Fath Karl R, Shorte Spencer, Reiners Jan, Houdusse Anne, Legrain Pierre, Wolfrum Uwe, Richardson Guy, Petit Christine (December 2002). "Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle". EMBO J. (England) 21 (24): 6689–99. doi:10.1093/emboj/cdf689. ISSN 0261-4189. PMC 139109. PMID 12485990. 
  5. ^ Siemens, Jan; Kazmierczak Piotr, Reynolds Anna, Sticker Melanie, Littlewood-Evans Amanda, Müller Ulrich (November 2002). "The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions". Proc. Natl. Acad. Sci. U.S.A. (United States) 99 (23): 14946–51. doi:10.1073/pnas.232579599. ISSN 0027-8424. PMC 137525. PMID 12407180. 

External links[edit]

Further reading[edit]

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