View source for 1ufx


==Solution structure of the third PDZ domain of human KIAA1526 protein==
<StructureSection load='1ufx' size='340' side='right'caption='[[1ufx]]' scene=''>
== Structural highlights ==
<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>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr>
<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>
</table>
== Disease ==
[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.
== Function ==
[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).
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
Check<jmol>
  <jmolCheckbox>
    <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/uf/1ufx_consurf.spt"</scriptWhenChecked>
    <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
    <text>to colour the structure by Evolutionary Conservation</text>
  </jmolCheckbox>
</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].
<div style="clear:both"></div>
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Aoki M]]
[[Category: Hirota H]]
[[Category: Inoue M]]
[[Category: Kigawa T]]
[[Category: Kikuno R]]
[[Category: Kobayashi N]]
[[Category: Koshiba S]]
[[Category: Matsuda T]]
[[Category: Matsuo Y]]
[[Category: Nagase T]]
[[Category: Nakayama M]]
[[Category: Ohara O]]
[[Category: Osanai T]]
[[Category: Seki E]]
[[Category: Shirouzu M]]
[[Category: Tanaka A]]
[[Category: Terada T]]
[[Category: Tochio N]]
[[Category: Yabuki T]]
[[Category: Yokoyama S]]
[[Category: Yoshida M]]