3k1r
From Proteopedia
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{{STRUCTURE_3k1r| PDB=3k1r | SCENE= }} | {{STRUCTURE_3k1r| PDB=3k1r | SCENE= }} | ||
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===Structure of harmonin NPDZ1 in complex with the SAM-PBM of Sans=== | ===Structure of harmonin NPDZ1 in complex with the SAM-PBM of Sans=== | ||
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{{ABSTRACT_PUBMED_20142502}} | {{ABSTRACT_PUBMED_20142502}} | ||
==Disease== | ==Disease== | ||
| - | + | [[http://www.uniprot.org/uniprot/USH1C_HUMAN USH1C_HUMAN]] Defects in USH1C are the cause of Usher syndrome type 1C (USH1C) [MIM:[http://omim.org/entry/276904 276904]]; also known as Usher syndrome type I Acadian variety. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.<ref>PMID:10973247</ref> Defects in USH1C are the cause of deafness, autosomal recessive, 18A (DFNB18A) [MIM:[http://omim.org/entry/602092 602092]]. A form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.<ref>PMID:12107438</ref> [[http://www.uniprot.org/uniprot/USH1G_HUMAN USH1G_HUMAN]] Defects in USH1G are the cause of Usher syndrome type 1G (USH1G) [MIM:[http://omim.org/entry/606943 606943]]. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.<ref>PMID:21709241</ref><ref>PMID:12588794</ref><ref>PMID:20142502</ref><ref>PMID:16283141</ref> | |
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/USH1C_HUMAN USH1C_HUMAN]] Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing (By similarity). [[http://www.uniprot.org/uniprot/USH1G_HUMAN USH1G_HUMAN]] Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.<ref>PMID:21709241</ref><ref>PMID:12588794</ref> | ||
==About this Structure== | ==About this Structure== | ||
| - | + | [[3k1r]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3K1R OCA]. | |
==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID: | + | <ref group="xtra">PMID:020142502</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Pan, L.]] | [[Category: Pan, L.]] | ||
[[Category: Yan, J.]] | [[Category: Yan, J.]] | ||
[[Category: Zhang, M.]] | [[Category: Zhang, M.]] | ||
| - | [[Category: Alternative splicing]] | ||
[[Category: Ank repeat]] | [[Category: Ank repeat]] | ||
| - | [[Category: Coiled coil]] | ||
[[Category: Deafness]] | [[Category: Deafness]] | ||
[[Category: Disease mutation]] | [[Category: Disease mutation]] | ||
[[Category: Hearing]] | [[Category: Hearing]] | ||
[[Category: Non-syndromic deafness]] | [[Category: Non-syndromic deafness]] | ||
| - | [[Category: Polymorphism]] | ||
[[Category: Protein-protein complex]] | [[Category: Protein-protein complex]] | ||
[[Category: Retinitis pigmentosa]] | [[Category: Retinitis pigmentosa]] | ||
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[[Category: Usher syndrome]] | [[Category: Usher syndrome]] | ||
[[Category: Vision]] | [[Category: Vision]] | ||
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| - | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Thu Feb 25 10:17:08 2010'' | ||
Revision as of 11:11, 24 March 2013
Contents |
Structure of harmonin NPDZ1 in complex with the SAM-PBM of Sans
Template:ABSTRACT PUBMED 20142502
Disease
[USH1C_HUMAN] Defects in USH1C are the cause of Usher syndrome type 1C (USH1C) [MIM:276904]; also known as Usher syndrome type I Acadian variety. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.[1] Defects in USH1C are the cause of deafness, autosomal recessive, 18A (DFNB18A) [MIM:602092]. A form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.[2] [USH1G_HUMAN] Defects in USH1G are the cause of Usher syndrome type 1G (USH1G) [MIM:606943]. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.[3][4][5][6]
Function
[USH1C_HUMAN] Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing (By similarity). [USH1G_HUMAN] Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.[7][8]
About this Structure
3k1r is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- 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
- ↑ 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
- ↑ Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PS, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. Hum Genet. 2002 Jun;110(6):527-31. Epub 2002 May 3. PMID:12107438 doi:10.1007/s00439-002-0732-4
- ↑ 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 Jul 12;108(28):11476-81. doi:, 10.1073/pnas.1104161108. Epub 2011 Jun 27. PMID:21709241 doi:10.1073/pnas.1104161108
- ↑ Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Laine S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C. 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 Mar 1;12(5):463-71. PMID:12588794
- ↑ 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
- ↑ Kalay E, de Brouwer AP, Caylan R, Nabuurs SB, Wollnik B, Karaguzel A, Heister JG, Erdol H, Cremers FP, Cremers CW, Brunner HG, Kremer H. A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. J Mol Med (Berl). 2005 Dec;83(12):1025-32. Epub 2005 Nov 8. PMID:16283141 doi:10.1007/s00109-005-0719-4
- ↑ 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 Jul 12;108(28):11476-81. doi:, 10.1073/pnas.1104161108. Epub 2011 Jun 27. PMID:21709241 doi:10.1073/pnas.1104161108
- ↑ Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Laine S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C. 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 Mar 1;12(5):463-71. PMID:12588794
