Harmonin
From Proteopedia
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== Structural highlights == | == Structural highlights == | ||
| - | Harm R103 forms a salt bridge with D458 of Usher syndrome type 1G protein and S115 forms hydrogen bond with it. The mutation of D458V in the Usher syndrome type 1G protein causes deaf-blindness<ref>PMID:20142502</ref>. | + | <scene name='77/775921/Cv/2'>Harm R103 forms a salt bridge with D458 of Usher syndrome type 1G protein and S115 forms hydrogen bond with it</scene>. The mutation of D458V in the Usher syndrome type 1G protein causes deaf-blindness<ref>PMID:20142502</ref>. |
Revision as of 12:56, 7 February 2018
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3D Structures of harmonin
Updated on 07-February-2018
References
- ↑ Reiners J, van Wijk E, Marker T, Zimmermann U, Jurgens K, te Brinke H, Overlack N, Roepman R, Knipper M, Kremer H, Wolfrum U. Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum Mol Genet. 2005 Dec 15;14(24):3933-43. Epub 2005 Nov 21. PMID:16301216 doi:http://dx.doi.org/ddi417
- ↑ Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Muller U. The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):14946-51. doi:, 10.1073/pnas.232579599. Epub 2002 Oct 29. PMID:12407180 doi:http://dx.doi.org/10.1073/pnas.232579599
- ↑ Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C. 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 Sep;26(1):51-5. PMID:10973247 doi:10.1038/79171
- ↑ Yan J, Pan L, Chen X, Wu L, Zhang M. The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins. Proc Natl Acad Sci U S A. 2010 Feb 8. PMID:20142502
