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==Solution structure of the third PDZ domain of human KIAA1526 protein==
==Solution structure of the third PDZ domain of human KIAA1526 protein==
<StructureSection load='1ufx' size='340' side='right'caption='[[1ufx]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
<StructureSection load='1ufx' size='340' side='right'caption='[[1ufx]]' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[1ufx]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. 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 [http://proteopedia.org/fgij/fg.htm?mol=1UFX FirstGlance]. <br>
<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='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">Kazusa cDNA fj04743 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
</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'>[http://proteopedia.org/fgij/fg.htm?mol=1ufx FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1ufx OCA], [http://pdbe.org/1ufx PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1ufx RCSB], [http://www.ebi.ac.uk/pdbsum/1ufx PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=1ufx ProSAT], [http://www.topsan.org/Proteins/RSGI/1ufx TOPSAN]</span></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>
</table>
== Disease ==
== Disease ==
[[http://www.uniprot.org/uniprot/WHRN_HUMAN WHRN_HUMAN]] Defects in DFNB31 are the cause of deafness autosomal recessive type 31 (DFNB31) [MIM:[http://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:[http://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.  
[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 ==
== Function ==
[[http://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).  
[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 ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
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__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
[[Category: Aoki, M]]
[[Category: Aoki M]]
[[Category: Hirota, H]]
[[Category: Hirota H]]
[[Category: Inoue, M]]
[[Category: Inoue M]]
[[Category: Kigawa, T]]
[[Category: Kigawa T]]
[[Category: Kikuno, R]]
[[Category: Kikuno R]]
[[Category: Kobayashi, N]]
[[Category: Kobayashi N]]
[[Category: Koshiba, S]]
[[Category: Koshiba S]]
[[Category: Matsuda, T]]
[[Category: Matsuda T]]
[[Category: Matsuo, Y]]
[[Category: Matsuo Y]]
[[Category: Nagase, T]]
[[Category: Nagase T]]
[[Category: Nakayama, M]]
[[Category: Nakayama M]]
[[Category: Ohara, O]]
[[Category: Ohara O]]
[[Category: Osanai, T]]
[[Category: Osanai T]]
[[Category: Structural genomic]]
[[Category: Seki E]]
[[Category: Seki, E]]
[[Category: Shirouzu M]]
[[Category: Shirouzu, M]]
[[Category: Tanaka A]]
[[Category: Tanaka, A]]
[[Category: Terada T]]
[[Category: Terada, T]]
[[Category: Tochio N]]
[[Category: Tochio, N]]
[[Category: Yabuki T]]
[[Category: Yabuki, T]]
[[Category: Yokoyama S]]
[[Category: Yokoyama, S]]
[[Category: Yoshida M]]
[[Category: Yoshida, M]]
[[Category: Pdz domain]]
[[Category: Protein binding]]
[[Category: Rsgi]]

Latest revision as of 02:52, 28 December 2023

Solution structure of the third PDZ domain of human KIAA1526 proteinSolution structure of the third PDZ domain of human KIAA1526 protein

Structural highlights

1ufx is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA. For a guided tour on the structure components use FirstGlance.
Method:Solution NMR
Resources:FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT, TOPSAN

Disease

WHRN_HUMAN Defects in DFNB31 are the cause of deafness autosomal recessive type 31 (DFNB31) [MIM: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.[1] [2] [3] Defects in DFNB31 are the cause of Usher syndrome type 2D (USH2D) [MIM: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

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

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

References

  1. ↑ Mustapha M, Chouery E, Chardenoux S, Naboulsi M, Paronnaud J, Lemainque A, Megarbane A, Loiselet J, Weil D, Lathrop M, Petit C. DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34. Eur J Hum Genet. 2002 Mar;10(3):210-2. PMID:11973626 doi:10.1038/sj.ejhg.5200780
  2. ↑ Mburu P, Mustapha M, Varela A, Weil D, El-Amraoui A, Holme RH, Rump A, Hardisty RE, Blanchard S, Coimbra RS, Perfettini I, Parkinson N, Mallon AM, Glenister P, Rogers MJ, Paige AJ, Moir L, Clay J, Rosenthal A, Liu XZ, Blanco G, Steel KP, Petit C, Brown SD. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet. 2003 Aug;34(4):421-8. PMID:12833159 doi:10.1038/ng1208
  3. ↑ Tlili A, Charfedine I, Lahmar I, Benzina Z, Mohamed BA, Weil D, Idriss N, Drira M, Masmoudi S, Ayadi H. Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss. Hum Mutat. 2005 May;25(5):503. PMID:15841483 doi:10.1002/humu.9333
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