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2l7t

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Revision as of 23:07, 10 September 2015

Solution structure of the MFS-bound Sans CEN2 peptide

Structural highlights

2l7t is a 1 chain structure. Full experimental information is available from OCA. For a guided tour on the structure components use FirstGlance.
Related:	3pvl
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum

Disease

[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.^[1] ^[2] ^[3] ^[4]

Function

[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.^[5] ^[6]

Publication Abstract from PubMed

The unconventional myosin VIIa (MYO7A) is one of the five proteins that form a network of complexes involved in formation of stereocilia. Defects in these proteins cause syndromic deaf-blindness in humans [Usher syndrome I (USH1)]. Many disease-causing mutations occur in myosin tail homology 4-protein 4.1, ezrin, radixin, moesin (MyTH4-FERM) domains in the myosin tail that binds to another USH1 protein, Sans. We report the crystal structure of MYO7A MyTH4-FERM domains in complex with the central domain (CEN) of Sans at 2.8 angstrom resolution. The MyTH4 and FERM domains form an integral structural and functional supramodule binding to two highly conserved segments (CEN1 and 2) of Sans. The MyTH4-FERM/CEN complex structure provides mechanistic explanations for known deafness-causing mutations in MYO7A MyTH4-FERM. The structure will also facilitate mechanistic and functional studies of MyTH4-FERM domains in other myosins.

Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.,Wu L, Pan L, Wei Z, Zhang M Science. 2011 Feb 11;331(6018):757-60. PMID:21311020^[7]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

References

↑ 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
↑ Wu L, Pan L, Wei Z, Zhang M. Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo. Science. 2011 Feb 11;331(6018):757-60. PMID:21311020 doi:10.1126/science.1198848

1 Structural highlights
2 Disease
3 Function
4 Publication Abstract from PubMed
5 References

Proteopedia Page Contributors and Editors (what is this?)

OCA

Retrieved from "http://52.214.119.220/wiki/index.php/2l7t"

@@ Line 4: / Line 4: @@
 <table><tr><td colspan='2'>[[2l7t]] is a 1 chain structure. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2L7T OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2L7T FirstGlance]. <br>
 </td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[3pvl|3pvl]]</td></tr>
-<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2l7t FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2l7t OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2l7t RCSB], [http://www.ebi.ac.uk/pdbsum/2l7t PDBsum]</span></td></tr>
+<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2l7t FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2l7t OCA], [http://pdbe.org/2l7t PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2l7t RCSB], [http://www.ebi.ac.uk/pdbsum/2l7t PDBsum]</span></td></tr>
 </table>
 == Disease ==
@@ Line 18: / Line 18: @@
 From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>
 </div>
+<div class="pdbe-citations 2l7t" style="background-color:#fffaf0;"></div>
 == References ==
 <references/>

2l7t

From Proteopedia

Revision as of 23:07, 10 September 2015

Solution structure of the MFS-bound Sans CEN2 peptide

Structural highlights

Disease

Function

Publication Abstract from PubMed

References

Contents

Proteopedia Page Contributors and Editors (what is this?)

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