1x5n

From Proteopedia

(Difference between revisions)
Jump to: navigation, search
Current revision (14:00, 9 May 2024) (edit) (undo)
 
(15 intermediate revisions not shown.)
Line 1: Line 1:
-
[[Image:1x5n.gif|left|200px]]
 
-
{{Structure
+
==Solution structure of the second PDZ domain of harmonin protein==
-
|PDB= 1x5n |SIZE=350|CAPTION= <scene name='initialview01'>1x5n</scene>
+
<StructureSection load='1x5n' size='340' side='right'caption='[[1x5n]]' scene=''>
-
|SITE=
+
== Structural highlights ==
-
|LIGAND=
+
<table><tr><td colspan='2'>[[1x5n]] 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=1X5N OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1X5N FirstGlance]. <br>
-
|ACTIVITY=
+
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr>
-
|GENE= USH1C; AIE75 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])
+
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=1x5n FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1x5n OCA], [https://pdbe.org/1x5n PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1x5n RCSB], [https://www.ebi.ac.uk/pdbsum/1x5n PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1x5n ProSAT], [https://www.topsan.org/Proteins/RSGI/1x5n TOPSAN]</span></td></tr>
-
}}
+
</table>
 +
== Disease ==
 +
[https://www.uniprot.org/uniprot/USH1C_HUMAN USH1C_HUMAN] Defects in USH1C are the cause of Usher syndrome type 1C (USH1C) [MIM:[https://omim.org/entry/276904 276904]; also known as Usher syndrome type I Acadian variety. 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.<ref>PMID:10973247</ref> Defects in USH1C are the cause of deafness, autosomal recessive, 18A (DFNB18A) [MIM:[https://omim.org/entry/602092 602092]. 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:12107438</ref>
 +
== Function ==
 +
[https://www.uniprot.org/uniprot/USH1C_HUMAN USH1C_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 (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/x5/1x5n_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=1x5n ConSurf].
 +
<div style="clear:both"></div>
-
'''Solution structure of the second PDZ domain of harmonin protein'''
+
==See Also==
-
 
+
*[[Harmonin|Harmonin]]
-
 
+
== References ==
-
==Disease==
+
<references/>
-
Known diseases associated with this structure: Deafness, autosomal recessive 18 OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605242 605242]], Usher syndrome, type 1C OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605242 605242]]
+
__TOC__
-
 
+
</StructureSection>
-
==About this Structure==
+
-
1X5N is a [[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=1X5N OCA].
+
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
-
[[Category: Single protein]]
+
[[Category: Large Structures]]
-
[[Category: Hayashi, F.]]
+
[[Category: Hayashi F]]
-
[[Category: Qin, X R.]]
+
[[Category: Qin XR]]
-
[[Category: RSGI, RIKEN Structural Genomics/Proteomics Initiative.]]
+
[[Category: Yokoyama S]]
-
[[Category: Yokoyama, S.]]
+
-
[[Category: antigen ny-co-38/ny-co-37]]
+
-
[[Category: autoimmune enteropathy-related antigen aie-75]]
+
-
[[Category: harmonin]]
+
-
[[Category: national project on protein structural and functional analyse]]
+
-
[[Category: nppsfa]]
+
-
[[Category: pdz domain]]
+
-
[[Category: pdz-73 protein]]
+
-
[[Category: riken structural genomics/proteomics initiative]]
+
-
[[Category: rsgi]]
+
-
[[Category: structural genomic]]
+
-
[[Category: usher syndrome 1c protein]]
+
-
 
+
-
''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Thu Mar 20 15:05:26 2008''
+

Current revision

Solution structure of the second PDZ domain of harmonin protein

PDB ID 1x5n

Drag the structure with the mouse to rotate

Proteopedia Page Contributors and Editors (what is this?)

OCA

Retrieved from "http://52.214.119.220/wiki/index.php/1x5n"
Personal tools