1uez: Difference between revisions

From Proteopedia
Jump to navigation Jump to search
← Older edit
No edit summary
No edit summary
 
(16 intermediate revisions by the same user not shown)
Line 1: Line 1:
[[Image:1uez.jpg|left|200px]]<br /><applet load="1uez" size="350" color="white" frame="true" align="right" spinBox="true"
caption="1uez" />
'''Solution structure of the first PDZ domain of human KIAA1526 protein'''<br />


==Disease==
==Solution structure of the first PDZ domain of human KIAA1526 protein==
Known diseases associated with this structure: Deafness, autosomal recessive 31 OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607928 607928]], Usher syndrome, type IID OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607928 607928]]
<StructureSection load='1uez' size='340' side='right'caption='[[1uez]]' scene=''>
 
== Structural highlights ==
==About this Structure==
<table><tr><td colspan='2'>[[1uez]] 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=1UEZ OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1UEZ FirstGlance]. <br>
1UEZ is a [http://en.wikipedia.org/wiki/Single_protein Single protein] 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=1UEZ OCA].  
</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=1uez FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1uez OCA], [https://pdbe.org/1uez PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1uez RCSB], [https://www.ebi.ac.uk/pdbsum/1uez PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1uez ProSAT], [https://www.topsan.org/Proteins/RSGI/1uez 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/ue/1uez_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=1uez ConSurf].
<div style="clear:both"></div>
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Single protein]]
[[Category: Large Structures]]
[[Category: Inoue, M.]]
[[Category: Inoue M]]
[[Category: Kigawa, T.]]
[[Category: Kigawa T]]
[[Category: Koshiba, S.]]
[[Category: Koshiba S]]
[[Category: Li, H.]]
[[Category: Li H]]
[[Category: Muto, Y.]]
[[Category: Muto Y]]
[[Category: RSGI, RIKEN.Structural.Genomics/Proteomics.Initiative.]]
[[Category: Yokoyama S]]
[[Category: Yokoyama, S.]]
[[Category: pdz domain]]
[[Category: riken structural genomics/proteomics initiative]]
[[Category: rsgi]]
[[Category: structural genomics]]
 
''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Fri Feb 15 17:01:25 2008''

Latest revision as of 02:52, 28 December 2023

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

Structural highlights

1uez 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
Drag the structure with the mouse to rotate

Proteopedia Page Contributors and Editors (what is this?)Proteopedia Page Contributors and Editors (what is this?)

OCA
Retrieved from "https://proteopedia.openfox.io/wiki/index.php?title=1uez&oldid=4006888"