1ufx

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{{Seed}}
 
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[[Image:1ufx.png|left|200px]]
 
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==Solution structure of the third PDZ domain of human KIAA1526 protein==
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The line below this paragraph, containing "STRUCTURE_1ufx", creates the "Structure Box" on the page.
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<StructureSection load='1ufx' size='340' side='right'caption='[[1ufx]]' scene=''>
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You may change the PDB parameter (which sets the PDB file loaded into the applet)
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== Structural highlights ==
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or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
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<table><tr><td colspan='2'>[[1ufx]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1UFX OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1UFX FirstGlance]. <br>
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or leave the SCENE parameter empty for the default display.
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=1ufx FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1ufx OCA], [https://pdbe.org/1ufx PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1ufx RCSB], [https://www.ebi.ac.uk/pdbsum/1ufx PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1ufx ProSAT], [https://www.topsan.org/Proteins/RSGI/1ufx TOPSAN]</span></td></tr>
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{{STRUCTURE_1ufx| PDB=1ufx | SCENE= }}
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</table>
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== Disease ==
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===Solution structure of the third PDZ domain of human KIAA1526 protein===
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[https://www.uniprot.org/uniprot/WHRN_HUMAN WHRN_HUMAN] Defects in DFNB31 are the cause of deafness autosomal recessive type 31 (DFNB31) [MIM:[https://omim.org/entry/607084 607084]. DFNB31 is 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:11973626</ref> <ref>PMID:12833159</ref> <ref>PMID:15841483</ref> Defects in DFNB31 are the cause of Usher syndrome type 2D (USH2D) [MIM:[https://omim.org/entry/611383 611383]. 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). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.
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== Function ==
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[https://www.uniprot.org/uniprot/WHRN_HUMAN WHRN_HUMAN] Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear (By similarity).
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==About this Structure==
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== Evolutionary Conservation ==
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1UFX is a 1 chain structure of 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=1UFX OCA].
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[[Image:Consurf_key_small.gif|200px|right]]
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Check<jmol>
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<jmolCheckbox>
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<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/uf/1ufx_consurf.spt"</scriptWhenChecked>
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
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<text>to colour the structure by Evolutionary Conservation</text>
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</jmolCheckbox>
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</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/main_output.php?pdb_ID=1ufx ConSurf].
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<div style="clear:both"></div>
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== References ==
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<references/>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Aoki, M.]]
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[[Category: Large Structures]]
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[[Category: Hirota, H.]]
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[[Category: Aoki M]]
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[[Category: Inoue, M.]]
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[[Category: Hirota H]]
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[[Category: Kigawa, T.]]
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[[Category: Inoue M]]
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[[Category: Kikuno, R.]]
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[[Category: Kigawa T]]
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[[Category: Kobayashi, N.]]
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[[Category: Kikuno R]]
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[[Category: Koshiba, S.]]
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[[Category: Kobayashi N]]
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[[Category: Matsuda, T.]]
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[[Category: Koshiba S]]
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[[Category: Matsuo, Y.]]
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[[Category: Matsuda T]]
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[[Category: Nagase, T.]]
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[[Category: Matsuo Y]]
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[[Category: Nakayama, M.]]
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[[Category: Nagase T]]
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[[Category: Ohara, O.]]
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[[Category: Nakayama M]]
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[[Category: Osanai, T.]]
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[[Category: Ohara O]]
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[[Category: RSGI, RIKEN Structural Genomics/Proteomics Initiative.]]
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[[Category: Osanai T]]
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[[Category: Seki, E.]]
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[[Category: Seki E]]
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[[Category: Shirouzu, M.]]
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[[Category: Shirouzu M]]
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[[Category: Tanaka, A.]]
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[[Category: Tanaka A]]
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[[Category: Terada, T.]]
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[[Category: Terada T]]
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[[Category: Tochio, N.]]
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[[Category: Tochio N]]
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[[Category: Yabuki, T.]]
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[[Category: Yabuki T]]
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[[Category: Yokoyama, S.]]
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[[Category: Yokoyama S]]
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[[Category: Yoshida, M.]]
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[[Category: Yoshida M]]
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[[Category: Pdz domain]]
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[[Category: Protein binding]]
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[[Category: Riken structural genomics/proteomics initiative]]
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[[Category: Rsgi]]
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[[Category: Structural genomic]]
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed May 13 11:19:05 2009''
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Current revision

Solution structure of the third PDZ domain of human KIAA1526 protein

PDB ID 1ufx

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Proteopedia Page Contributors and Editors (what is this?)

OCA

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