5vvm - Revision history

OCA at 13:59, 4 October 2023

OCA — Wed, 04 Oct 2023 13:59:38 GMT

←Older revision		Revision as of 13:59, 4 October 2023
Line 3:		Line 3:
	<StructureSection load='5vvm' size='340' side='right'caption='[[5vvm]], [[Resolution\|resolution]] 3.54Å' scene=''>		<StructureSection load='5vvm' size='340' side='right'caption='[[5vvm]], [[Resolution\|resolution]] 3.54Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[5vvm]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/~~Human Human~~]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5VVM OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=5VVM FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[5vvm]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5VVM OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=5VVM FirstGlance]. <br>
-	</td></tr><tr id='~~ligand~~'><td class="sblockLbl"><b>[[~~Ligand~~\|~~Ligands~~:]]</b></td><td class="sblockDat" id="~~ligandDat~~">~~<scene name='pdbligand=CA:CALCIUM+ION'>CA</scene>~~</td></tr>	+	</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models\|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution\|Resolution]] 3.54Å</td></tr>
-	<tr id='~~gene~~'><td class="sblockLbl"><b>[[~~Gene~~\|~~Gene~~:]]</b></td><td class="sblockDat">~~CDH23, KIAA1774, KIAA1812, UNQ1894/PRO4340 ([https~~:/~~/www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])~~</td></tr>	+	<tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CA:CALCIUM+ION'>CA</scene></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=5vvm FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5vvm OCA], [https://pdbe.org/5vvm PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=5vvm RCSB], [https://www.ebi.ac.uk/pdbsum/5vvm PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=5vvm ProSAT]</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=5vvm FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5vvm OCA], [https://pdbe.org/5vvm PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=5vvm RCSB], [https://www.ebi.ac.uk/pdbsum/5vvm PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=5vvm ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
-	[[https://www.uniprot.org/uniprot/CAD23_HUMAN CAD23_HUMAN]] Defects in CDH23 are the cause of Usher syndrome type 1D (USH1D) [MIM:[https://omim.org/entry/601067 601067]]. 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:11138009</ref> <ref>PMID:12075507</ref> <ref>PMID:15660226</ref> <ref>PMID:15537665</ref> <ref>PMID:16679490</ref> <ref>PMID:18429043</ref> Defects in CDH23 are a cause of Usher syndrome type 1D/F (USH1DF) [MIM:[https://omim.org/entry/601067 601067]]. USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern.<ref>PMID:15537665</ref> Defects in CDH23 are the cause of deafness autosomal recessive type 12 (DFNB12) [MIM:[https://omim.org/entry/601386 601386]]. DFNB12 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:12075507</ref> <ref>PMID:16679490</ref> <ref>PMID:11090341</ref> <ref>PMID:12522556</ref> <ref>PMID:15829536</ref> <ref>PMID:17850630</ref>	+	[https://www.uniprot.org/uniprot/CAD23_HUMAN CAD23_HUMAN] Defects in CDH23 are the cause of Usher syndrome type 1D (USH1D) [MIM:[https://omim.org/entry/601067 601067]. 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:11138009</ref> <ref>PMID:12075507</ref> <ref>PMID:15660226</ref> <ref>PMID:15537665</ref> <ref>PMID:16679490</ref> <ref>PMID:18429043</ref> Defects in CDH23 are a cause of Usher syndrome type 1D/F (USH1DF) [MIM:[https://omim.org/entry/601067 601067]. USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern.<ref>PMID:15537665</ref> Defects in CDH23 are the cause of deafness autosomal recessive type 12 (DFNB12) [MIM:[https://omim.org/entry/601386 601386]. DFNB12 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:12075507</ref> <ref>PMID:16679490</ref> <ref>PMID:11090341</ref> <ref>PMID:12522556</ref> <ref>PMID:15829536</ref> <ref>PMID:17850630</ref>
	== Function ==		== Function ==
-	[[https://www.uniprot.org/uniprot/CAD23_HUMAN CAD23_HUMAN]] Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.	+	[https://www.uniprot.org/uniprot/CAD23_HUMAN CAD23_HUMAN] Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">
	== Publication Abstract from PubMed ==		== Publication Abstract from PubMed ==
Line 28:		Line 28:
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Human~~]]	+	[[Category: Homo sapiens]]
	[[Category: Large Structures]]		[[Category: Large Structures]]
-	[[Category: Jaiganesh, A]]	+	[[Category: Jaiganesh A]]
-	[[Category: Patel, A]]	+	[[Category: Patel A]]
-	[[Category: Sotomayor, M]]	+	[[Category: Sotomayor M]]
-	~~[[Category: Adhesion]]~~	+
-	~~[[Category: Calcium-binding protein]]~~	+
-	~~[[Category: Cell adhesion]]~~	+
-	~~[[Category: Hearing]]~~	+
-	~~[[Category: Mechanotransduction~~]]	+

OCA at 07:07, 16 March 2022

OCA — Wed, 16 Mar 2022 07:07:22 GMT

←Older revision		Revision as of 07:07, 16 March 2022
Line 1:		Line 1:

	==Crystal structure of human CDH23 EC21-23==		==Crystal structure of human CDH23 EC21-23==
-	<StructureSection load='5vvm' size='340' side='right' caption='[[5vvm]], [[Resolution\|resolution]] 3.54Å' scene=''>	+	<StructureSection load='5vvm' size='340' side='right'caption='[[5vvm]], [[Resolution\|resolution]] 3.54Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[5vvm]] is a 2 chain structure with sequence from [~~http~~://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5VVM OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=5VVM FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[5vvm]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5VVM OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=5VVM FirstGlance]. <br>
-	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=CA:CALCIUM+ION'>CA</scene></td></tr>	+	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CA:CALCIUM+ION'>CA</scene></td></tr>
-	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">CDH23, KIAA1774, KIAA1812, UNQ1894/PRO4340 ([~~http~~://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>	+	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">CDH23, KIAA1774, KIAA1812, UNQ1894/PRO4340 ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
-	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=5vvm FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5vvm OCA], [~~http~~://pdbe.org/5vvm PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=5vvm RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/5vvm PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=5vvm ProSAT]</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=5vvm FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5vvm OCA], [https://pdbe.org/5vvm PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=5vvm RCSB], [https://www.ebi.ac.uk/pdbsum/5vvm PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=5vvm ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
-	[[~~http~~://www.uniprot.org/uniprot/CAD23_HUMAN CAD23_HUMAN]] Defects in CDH23 are the cause of Usher syndrome type 1D (USH1D) [MIM:[~~http~~://omim.org/entry/601067 601067]]. 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:11138009</ref> <ref>PMID:12075507</ref> <ref>PMID:15660226</ref> <ref>PMID:15537665</ref> <ref>PMID:16679490</ref> <ref>PMID:18429043</ref> Defects in CDH23 are a cause of Usher syndrome type 1D/F (USH1DF) [MIM:[~~http~~://omim.org/entry/601067 601067]]. USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern.<ref>PMID:15537665</ref> Defects in CDH23 are the cause of deafness autosomal recessive type 12 (DFNB12) [MIM:[~~http~~://omim.org/entry/601386 601386]]. DFNB12 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:12075507</ref> <ref>PMID:16679490</ref> <ref>PMID:11090341</ref> <ref>PMID:12522556</ref> <ref>PMID:15829536</ref> <ref>PMID:17850630</ref>	+	[[https://www.uniprot.org/uniprot/CAD23_HUMAN CAD23_HUMAN]] Defects in CDH23 are the cause of Usher syndrome type 1D (USH1D) [MIM:[https://omim.org/entry/601067 601067]]. 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:11138009</ref> <ref>PMID:12075507</ref> <ref>PMID:15660226</ref> <ref>PMID:15537665</ref> <ref>PMID:16679490</ref> <ref>PMID:18429043</ref> Defects in CDH23 are a cause of Usher syndrome type 1D/F (USH1DF) [MIM:[https://omim.org/entry/601067 601067]]. USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern.<ref>PMID:15537665</ref> Defects in CDH23 are the cause of deafness autosomal recessive type 12 (DFNB12) [MIM:[https://omim.org/entry/601386 601386]]. DFNB12 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:12075507</ref> <ref>PMID:16679490</ref> <ref>PMID:11090341</ref> <ref>PMID:12522556</ref> <ref>PMID:15829536</ref> <ref>PMID:17850630</ref>
	== Function ==		== Function ==
-	[[~~http~~://www.uniprot.org/uniprot/CAD23_HUMAN CAD23_HUMAN]] Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.	+	[[https://www.uniprot.org/uniprot/CAD23_HUMAN CAD23_HUMAN]] Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">
	== Publication Abstract from PubMed ==		== Publication Abstract from PubMed ==
Line 21:		Line 21:
	</div>		</div>
	<div class="pdbe-citations 5vvm" style="background-color:#fffaf0;"></div>		<div class="pdbe-citations 5vvm" style="background-color:#fffaf0;"></div>
		+
		+	==See Also==
		+	*[[Cadherin 3D structures\|Cadherin 3D structures]]
	== References ==		== References ==
	<references/>		<references/>
Line 26:		Line 29:
	</StructureSection>		</StructureSection>
	[[Category: Human]]		[[Category: Human]]
		+	[[Category: Large Structures]]
	[[Category: Jaiganesh, A]]		[[Category: Jaiganesh, A]]
	[[Category: Patel, A]]		[[Category: Patel, A]]

OCA at 19:02, 1 August 2018

OCA — Wed, 01 Aug 2018 19:02:30 GMT

←Older revision		Revision as of 19:02, 1 August 2018
Line 3:		Line 3:
	<StructureSection load='5vvm' size='340' side='right' caption='[[5vvm]], [[Resolution\|resolution]] 3.54Å' scene=''>		<StructureSection load='5vvm' size='340' side='right' caption='[[5vvm]], [[Resolution\|resolution]] 3.54Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[5vvm]] is a 2 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5VVM OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5VVM FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[5vvm]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5VVM OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5VVM FirstGlance]. <br>
	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=CA:CALCIUM+ION'>CA</scene></td></tr>		</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=CA:CALCIUM+ION'>CA</scene></td></tr>
		+	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">CDH23, KIAA1774, KIAA1812, UNQ1894/PRO4340 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5vvm FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5vvm OCA], [http://pdbe.org/5vvm PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=5vvm RCSB], [http://www.ebi.ac.uk/pdbsum/5vvm PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=5vvm ProSAT]</span></td></tr>		<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5vvm FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5vvm OCA], [http://pdbe.org/5vvm PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=5vvm RCSB], [http://www.ebi.ac.uk/pdbsum/5vvm PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=5vvm ProSAT]</span></td></tr>
	</table>		</table>
Line 11:		Line 12:
	== Function ==		== Function ==
	[[http://www.uniprot.org/uniprot/CAD23_HUMAN CAD23_HUMAN]] Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.		[[http://www.uniprot.org/uniprot/CAD23_HUMAN CAD23_HUMAN]] Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.
		+	<div style="background-color:#fffaf0;">
		+	== Publication Abstract from PubMed ==
		+	Cadherin-23 (CDH23) is an essential component of hair-cell tip links, fine filaments that mediate inner-ear mechanotransduction. The extracellular domain of CDH23 forms about three-fourths of the tip link with 27 extracellular cadherin (EC) repeats that are structurally similar but not identical to each other. Calcium (Ca(2+)) coordination at the EC linker regions is key for tip-link elasticity and function. There are approximately 116 sites in CDH23 affected by deafness-causing mutations, many of which alter conserved Ca(2+)-binding residues. Here we present crystal structures showing 18 CDH23 EC repeats, including the most and least conserved, a fragment carrying disease mutations, and EC repeats with non-canonical Ca(2+)-binding motif sequences and unusual secondary structure. Complementary experiments show deafness mutations' effects on stability and affinity for Ca(2+). Additionally, a model of nine contiguous CDH23 EC repeats reveals helicity and potential parallel dimerization faces. Overall, our studies provide detailed structural insight into CDH23 function in mechanotransduction.
		+
		+	Zooming in on Cadherin-23: Structural Diversity and Potential Mechanisms of Inherited Deafness.,Jaiganesh A, De-la-Torre P, Patel AA, Termine DJ, Velez-Cortes F, Chen C, Sotomayor M Structure. 2018 Jun 27. pii: S0969-2126(18)30209-0. doi:, 10.1016/j.str.2018.06.003. PMID:30033219<ref>PMID:30033219</ref>
		+
		+	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
		+	</div>
		+	<div class="pdbe-citations 5vvm" style="background-color:#fffaf0;"></div>
	== References ==		== References ==
	<references/>		<references/>
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
		+	[[Category: Human]]
	[[Category: Jaiganesh, A]]		[[Category: Jaiganesh, A]]
	[[Category: Patel, A]]		[[Category: Patel, A]]

OCA at 07:14, 23 May 2018

OCA — Wed, 23 May 2018 07:14:54 GMT

←Older revision		Revision as of 07:14, 23 May 2018
Line 1:		Line 1:
-	'''Unreleased structure'''

-	~~The entry~~ 5vvm is ~~ON HOLD~~ ~~until Paper Publication~~	+	==Crystal structure of human CDH23 EC21-23==
-		+	<StructureSection load='5vvm' size='340' side='right' caption='[[5vvm]], [[Resolution\|resolution]] 3.54Å' scene=''>
-	~~Authors~~:	+	== Structural highlights ==
-		+	<table><tr><td colspan='2'>[[5vvm]] is a 2 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5VVM OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5VVM FirstGlance]. <br>
-	~~Description~~:	+	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=CA:CALCIUM+ION'>CA</scene></td></tr>
-	[[Category: ~~Unreleased Structures~~]]	+	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5vvm FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5vvm OCA], [http://pdbe.org/5vvm PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=5vvm RCSB], [http://www.ebi.ac.uk/pdbsum/5vvm PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=5vvm ProSAT]</span></td></tr>
		+	</table>
		+	== Disease ==
		+	[[http://www.uniprot.org/uniprot/CAD23_HUMAN CAD23_HUMAN]] Defects in CDH23 are the cause of Usher syndrome type 1D (USH1D) [MIM:[http://omim.org/entry/601067 601067]]. 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:11138009</ref> <ref>PMID:12075507</ref> <ref>PMID:15660226</ref> <ref>PMID:15537665</ref> <ref>PMID:16679490</ref> <ref>PMID:18429043</ref> Defects in CDH23 are a cause of Usher syndrome type 1D/F (USH1DF) [MIM:[http://omim.org/entry/601067 601067]]. USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern.<ref>PMID:15537665</ref> Defects in CDH23 are the cause of deafness autosomal recessive type 12 (DFNB12) [MIM:[http://omim.org/entry/601386 601386]]. DFNB12 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:12075507</ref> <ref>PMID:16679490</ref> <ref>PMID:11090341</ref> <ref>PMID:12522556</ref> <ref>PMID:15829536</ref> <ref>PMID:17850630</ref>
		+	== Function ==
		+	[[http://www.uniprot.org/uniprot/CAD23_HUMAN CAD23_HUMAN]] Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.
		+	== References ==
		+	<references/>
		+	__TOC__
		+	</StructureSection>
		+	[[Category: Jaiganesh, A]]
		+	[[Category: Patel, A]]
		+	[[Category: Sotomayor, M]]
		+	[[Category: Adhesion]]
		+	[[Category: Calcium-binding protein]]
		+	[[Category: Cell adhesion]]
		+	[[Category: Hearing]]
		+	[[Category: Mechanotransduction]]

OCA: Protected "5vvm" [edit=sysop:move=sysop]

OCA — Wed, 27 Sep 2017 14:14:13 GMT

Protected "5vvm" [edit=sysop:move=sysop]

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Revision as of 14:14, 27 September 2017

OCA: New page: '''Unreleased structure''' The entry 5vvm is ON HOLD until Paper Publication Authors: Description: Category: Unreleased Structures

OCA — Wed, 27 Sep 2017 14:14:11 GMT

New page: '''Unreleased structure''' The entry 5vvm is ON HOLD until Paper Publication Authors: Description: Category: Unreleased Structures

New page

'''Unreleased structure'''

The entry 5vvm is ON HOLD until Paper Publication

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Description:
[[Category: Unreleased Structures]]