2xt3 - Revision history

OCA at 10:38, 20 December 2023

2023-12-20T10:38:47Z

← Older revision		Revision as of 10:38, 20 December 2023
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	<StructureSection load='2xt3' size='340' side='right'caption='[[2xt3]], [[Resolution\|resolution]] 1.88Å' scene=''>		<StructureSection load='2xt3' size='340' side='right'caption='[[2xt3]], [[Resolution\|resolution]] 1.88Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[2xt3]] is a 1 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=2XT3 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2XT3 FirstGlance]. <br>		<table><tr><td colspan='2'>[[2xt3]] is a 1 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=2XT3 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2XT3 FirstGlance]. <br>
	</td></tr><tr id='~~ligand~~'><td class="sblockLbl"><b>[[~~Ligand~~\|~~Ligands~~:]]</b></td><td class="sblockDat" id="~~ligandDat~~">~~<scene name='pdbligand=ADP:ADENOSINE-5~~-~~DIPHOSPHATE'>ADP</scene>~~, ~~<scene name='pdbligand=MG:MAGNESIUM+ION'>MG</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]] 1.882Å</td></tr>
	<tr id='~~related~~'><td class="sblockLbl"><b>[[~~Related_structure~~\|~~Related~~:]]</b></td><td class="sblockDat"><~~div style~~='~~overflow~~: ~~auto; max~~-~~height~~: ~~3em;~~'>~~[[4a14\|4a14]]~~</~~div~~></td></tr>		<tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ADP:ADENOSINE-5-DIPHOSPHATE'>ADP</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</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=2xt3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2xt3 OCA], [https://pdbe.org/2xt3 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2xt3 RCSB], [https://www.ebi.ac.uk/pdbsum/2xt3 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2xt3 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=2xt3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2xt3 OCA], [https://pdbe.org/2xt3 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2xt3 RCSB], [https://www.ebi.ac.uk/pdbsum/2xt3 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2xt3 ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
	[[https://www.uniprot.org/uniprot/KIF7_HUMAN KIF7_HUMAN]] Joubert syndrome;Hydrolethalus;Joubert syndrome with ocular defect;Joubert syndrome with orofaciodigital defect;Multiple epiphyseal dysplasia, Al-Gazali type;Acrocallosal syndrome. Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, and hydrolethalus syndrome among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome influence the clinical outcome. Primary ciliopathy loci can be modulated by pathogenic lesions in other ciliary genes to either exacerbate overall severity or induce specific endophenotypes. KIF7 may be causally associated with diverse ciliopathies, and also acts as a modifier gene across the ciliopathy spectrum. The gene represented in this entry may act as a disease modifier. Heterozygous missense mutations in KIF7 may genetically interact with other BBS genes and contribute to disease manifestation and severity. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The gene represented in this entry may be involved in disease pathogenesis.		[https://www.uniprot.org/uniprot/KIF7_HUMAN KIF7_HUMAN] Joubert syndrome;Hydrolethalus;Joubert syndrome with ocular defect;Joubert syndrome with orofaciodigital defect;Multiple epiphyseal dysplasia, Al-Gazali type;Acrocallosal syndrome. Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, and hydrolethalus syndrome among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome influence the clinical outcome. Primary ciliopathy loci can be modulated by pathogenic lesions in other ciliary genes to either exacerbate overall severity or induce specific endophenotypes. KIF7 may be causally associated with diverse ciliopathies, and also acts as a modifier gene across the ciliopathy spectrum. The gene represented in this entry may act as a disease modifier. Heterozygous missense mutations in KIF7 may genetically interact with other BBS genes and contribute to disease manifestation and severity. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The gene represented in this entry may be involved in disease pathogenesis.
	== Function ==		== Function ==
	[[https://www.uniprot.org/uniprot/KIF7_HUMAN KIF7_HUMAN]] Acts as both a negative and positive regulator of sonic hedgehog (Shh) pathway, acting downstream of SMO. Negatively regulates the pathway by preventing inappropriate activation of the transcriptional activator GLI2 in the absence of ligand. Positively regulates the pathway by preventing the processing of the transcription factor GLI3 into its repressor form. Required for efficient localization of GLI3 to cilia in response to Shh. Affects microtubular dynamics and acts as a ciliary motor.<ref>PMID:21633164</ref>		[https://www.uniprot.org/uniprot/KIF7_HUMAN KIF7_HUMAN] Acts as both a negative and positive regulator of sonic hedgehog (Shh) pathway, acting downstream of SMO. Negatively regulates the pathway by preventing inappropriate activation of the transcriptional activator GLI2 in the absence of ligand. Positively regulates the pathway by preventing the processing of the transcription factor GLI3 into its repressor form. Required for efficient localization of GLI3 to cilia in response to Shh. Affects microtubular dynamics and acts as a ciliary motor.<ref>PMID:21633164</ref>
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">
	== Publication Abstract from PubMed ==		== Publication Abstract from PubMed ==
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	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
	[[Category: ~~Human~~]]		[[Category: Homo sapiens]]
	[[Category: Large Structures]]		[[Category: Large Structures]]
	[[Category: Klejnot, M]]		[[Category: Klejnot M]]
	[[Category: Kozielski, F]]		[[Category: Kozielski F]]
	~~[[Category: Motor protein]]~~
	~~[[Category: Signal transduction~~]]

OCA at 12:16, 27 April 2022

2022-04-27T12:16:51Z

OCA at 12:19, 22 July 2020

2020-07-22T12:19:58Z

← Older revision		Revision as of 12:19, 22 July 2020
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	==HUMAN KIF7, A KINESIN INVOLVED IN HEDGEHOG SIGNALLING==		==HUMAN KIF7, A KINESIN INVOLVED IN HEDGEHOG SIGNALLING==
	<StructureSection load='2xt3' size='340' side='right' caption='[[2xt3]], [[Resolution\|resolution]] 1.88Å' scene=''>		<StructureSection load='2xt3' size='340' side='right'caption='[[2xt3]], [[Resolution\|resolution]] 1.88Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[2xt3]] is a 1 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=2XT3 OCA]. For a <b>guided tour on the structure components</b> use [http://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=2XT3 FirstGlance]. <br>		<table><tr><td colspan='2'>[[2xt3]] is a 1 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=2XT3 OCA]. For a <b>guided tour on the structure components</b> use [http://proteopedia.org/fgij/fg.htm?mol=2XT3 FirstGlance]. <br>
	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=ADP:ADENOSINE-5-DIPHOSPHATE'>ADP</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene></td></tr>		</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ADP:ADENOSINE-5-DIPHOSPHATE'>ADP</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene></td></tr>
	<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[4a14\|4a14]]</td></tr>		<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[4a14\|4a14]]</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=2xt3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2xt3 OCA], [http://pdbe.org/2xt3 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2xt3 RCSB], [http://www.ebi.ac.uk/pdbsum/2xt3 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2xt3 ProSAT]</span></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=2xt3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2xt3 OCA], [http://pdbe.org/2xt3 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2xt3 RCSB], [http://www.ebi.ac.uk/pdbsum/2xt3 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2xt3 ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
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	==See Also==		==See Also==
	*[[Kinesin\|Kinesin]]		*[[Kinesin 3D Structures\|Kinesin 3D Structures]]
	== References ==		== References ==
	<references/>		<references/>
Line 29:		Line 29:
	</StructureSection>		</StructureSection>
	[[Category: Human]]		[[Category: Human]]
			[[Category: Large Structures]]
	[[Category: Klejnot, M]]		[[Category: Klejnot, M]]
	[[Category: Kozielski, F]]		[[Category: Kozielski, F]]
	[[Category: Motor protein]]		[[Category: Motor protein]]
	[[Category: Signal transduction]]		[[Category: Signal transduction]]

OCA at 09:15, 10 October 2018

2018-10-10T09:15:08Z

← Older revision		Revision as of 09:15, 10 October 2018
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	</div>		</div>
	<div class="pdbe-citations 2xt3" style="background-color:#fffaf0;"></div>		<div class="pdbe-citations 2xt3" style="background-color:#fffaf0;"></div>

			==See Also==
			*[[Kinesin\|Kinesin]]
	== References ==		== References ==
	<references/>		<references/>

OCA at 07:15, 5 August 2016

2016-08-05T07:15:51Z

← Older revision		Revision as of 07:15, 5 August 2016
Line 1:		Line 1:

	==HUMAN KIF7, A KINESIN INVOLVED IN HEDGEHOG SIGNALLING==		==HUMAN KIF7, A KINESIN INVOLVED IN HEDGEHOG SIGNALLING==
	<StructureSection load='2xt3' size='340' side='right' caption='[[2xt3]], [[Resolution\|resolution]] 1.88Å' scene=''>		<StructureSection load='2xt3' size='340' side='right' caption='[[2xt3]], [[Resolution\|resolution]] 1.88Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[2xt3]] is a 1 chain structure with 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=2XT3 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2XT3 FirstGlance]. <br>		<table><tr><td colspan='2'>[[2xt3]] is a 1 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=2XT3 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2XT3 FirstGlance]. <br>
	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=ADP:ADENOSINE-5-DIPHOSPHATE'>ADP</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene></td></tr>		</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=ADP:ADENOSINE-5-DIPHOSPHATE'>ADP</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene></td></tr>
	<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[4a14\|4a14]]</td></tr>		<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[4a14\|4a14]]</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=2xt3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2xt3 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2xt3 RCSB], [http://www.ebi.ac.uk/pdbsum/2xt3 PDBsum]</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=2xt3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2xt3 OCA], [http://pdbe.org/2xt3 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2xt3 RCSB], [http://www.ebi.ac.uk/pdbsum/2xt3 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2xt3 ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
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	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>		From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
	</div>		</div>
			<div class="pdbe-citations 2xt3" style="background-color:#fffaf0;"></div>
	== References ==		== References ==
	<references/>		<references/>
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
	[[Category: ~~Homo sapiens~~]]		[[Category: Human]]
	[[Category: Klejnot, M]]		[[Category: Klejnot, M]]
	[[Category: Kozielski, F]]		[[Category: Kozielski, F]]
	[[Category: Motor protein]]		[[Category: Motor protein]]
	[[Category: Signal transduction]]		[[Category: Signal transduction]]

OCA at 22:59, 3 January 2015

2015-01-03T22:59:18Z

← Older revision		Revision as of 22:59, 3 January 2015
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	<StructureSection load='2xt3' size='340' side='right' caption='[[2xt3]], [[Resolution\|resolution]] 1.88Å' scene=''>		<StructureSection load='2xt3' size='340' side='right' caption='[[2xt3]], [[Resolution\|resolution]] 1.88Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[2xt3]] is a 1 chain structure with 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=2XT3 OCA]. <br>		<table><tr><td colspan='2'>[[2xt3]] is a 1 chain structure with 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=2XT3 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2XT3 FirstGlance]. <br>
	</td></tr><tr><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=ADP:ADENOSINE-5-DIPHOSPHATE'>ADP</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene><br>		</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=ADP:ADENOSINE-5-DIPHOSPHATE'>ADP</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene></td></tr>
	<tr><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[4a14\|4a14]]</td></tr>		<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[4a14\|4a14]]</td></tr>
	<tr~~><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class~~='~~plainlinks~~'~~>[http://en.wikipedia.org/wiki/Glucokinase Glucokinase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.7.1.2 2.7.1.2] </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=2xt3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2xt3 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2xt3 RCSB], [http://www.ebi.ac.uk/pdbsum/2xt3 PDBsum]</span></td></tr>
	~~<tr~~><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2xt3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2xt3 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2xt3 RCSB], [http://www.ebi.ac.uk/pdbsum/2xt3 PDBsum]</span></td></tr>		</table>
	<table>
	== Disease ==		== Disease ==
	[[http://www.uniprot.org/uniprot/KIF7_HUMAN KIF7_HUMAN]] Joubert syndrome;Hydrolethalus;Joubert syndrome with ocular defect;Joubert syndrome with orofaciodigital defect;Multiple epiphyseal dysplasia, Al-Gazali type;Acrocallosal syndrome. Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, and hydrolethalus syndrome among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome influence the clinical outcome. Primary ciliopathy loci can be modulated by pathogenic lesions in other ciliary genes to either exacerbate overall severity or induce specific endophenotypes. KIF7 may be causally associated with diverse ciliopathies, and also acts as a modifier gene across the ciliopathy spectrum. The gene represented in this entry may act as a disease modifier. Heterozygous missense mutations in KIF7 may genetically interact with other BBS genes and contribute to disease manifestation and severity. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The gene represented in this entry may be involved in disease pathogenesis.		[[http://www.uniprot.org/uniprot/KIF7_HUMAN KIF7_HUMAN]] Joubert syndrome;Hydrolethalus;Joubert syndrome with ocular defect;Joubert syndrome with orofaciodigital defect;Multiple epiphyseal dysplasia, Al-Gazali type;Acrocallosal syndrome. Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, and hydrolethalus syndrome among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome influence the clinical outcome. Primary ciliopathy loci can be modulated by pathogenic lesions in other ciliary genes to either exacerbate overall severity or induce specific endophenotypes. KIF7 may be causally associated with diverse ciliopathies, and also acts as a modifier gene across the ciliopathy spectrum. The gene represented in this entry may act as a disease modifier. Heterozygous missense mutations in KIF7 may genetically interact with other BBS genes and contribute to disease manifestation and severity. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The gene represented in this entry may be involved in disease pathogenesis.
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	Structural insights into human Kif7, a kinesin involved in Hedgehog signalling.,Klejnot M, Kozielski F Acta Crystallogr D Biol Crystallogr. 2012 Feb;68(Pt 2):154-9. Epub 2012, Jan 13. PMID:22281744<ref>PMID:22281744</ref>		Structural insights into human Kif7, a kinesin involved in Hedgehog signalling.,Klejnot M, Kozielski F Acta Crystallogr D Biol Crystallogr. 2012 Feb;68(Pt 2):154-9. Epub 2012, Jan 13. PMID:22281744<ref>PMID:22281744</ref>

	From ~~MEDLINEÂ®~~/~~PubMedÂ®~~, a database of the U.S. National Library of Medicine.<br>		From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
	</div>		</div>
	== References ==		== References ==
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	</StructureSection>		</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Klejnot, M.]]		[[Category: Klejnot, M]]
	[[Category: Kozielski, F.]]		[[Category: Kozielski, F]]
	[[Category: Motor protein]]		[[Category: Motor protein]]
	[[Category: Signal transduction]]		[[Category: Signal transduction]]

OCA at 07:53, 14 May 2014

2014-05-14T07:53:18Z

@@ Line 1: / Line 1: @@
-[[Image:2xt3.png|left|200px]]
+==HUMAN KIF7, A KINESIN INVOLVED IN HEDGEHOG SIGNALLING==
-<!--
+Structural insights into human Kif7, a kinesin involved in Hedgehog signalling.,Klejnot M, Kozielski F Acta Crystallogr D Biol Crystallogr. 2012 Feb;68(Pt 2):154-9. Epub 2012, Jan 13. PMID:22281744<ref>PMID:22281744</ref>
-===HUMAN KIF7, A KINESIN INVOLVED IN HEDGEHOG SIGNALLING===
+From MEDLINEÂ®/PubMedÂ®, a database of the U.S. National Library of Medicine.<br>
+</div>
+== References ==
-<!--
+<references/>
-The line below this paragraph, {{ABSTRACT_PUBMED_22281744}}, adds the Publication Abstract to the page
+__TOC__
-(as it appears on PubMed at http://www.pubmed.gov), where 22281744 is the PubMed ID number.
+</StructureSection>
 [[Category: Homo sapiens]]
 [[Category: Klejnot, M.]]

OCA at 06:02, 15 February 2012

2012-02-15T06:02:34Z

← Older revision		Revision as of 06:02, 15 February 2012
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	{{STRUCTURE_2xt3\| PDB=2xt3 \| SCENE= }}		{{STRUCTURE_2xt3\| PDB=2xt3 \| SCENE= }}

	===~~Kinesin~~===		===HUMAN KIF7, A KINESIN INVOLVED IN HEDGEHOG SIGNALLING===


			<!--
			The line below this paragraph, {{ABSTRACT_PUBMED_22281744}}, adds the Publication Abstract to the page
			(as it appears on PubMed at http://www.pubmed.gov), where 22281744 is the PubMed ID number.
			-->
			{{ABSTRACT_PUBMED_22281744}}

	==About this Structure==		==About this Structure==
	[[2xt3]] is a 1 chain structure with 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=2XT3 OCA].		[[2xt3]] is a 1 chain structure with 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=2XT3 OCA].

			==Reference==
			<ref group="xtra">PMID:022281744</ref><references group="xtra"/>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Klejnot, M.]]		[[Category: Klejnot, M.]]

OCA at 05:48, 25 January 2012

2012-01-25T05:48:26Z

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	[[Image:2xt3.~~jpg~~\|left\|200px]]		[[Image:2xt3.png\|left\|200px]]

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	{{STRUCTURE_2xt3\| PDB=2xt3 \| SCENE= }}		{{STRUCTURE_2xt3\| PDB=2xt3 \| SCENE= }}

	===~~KINESIN~~===		===Kinesin===

OCA at 11:45, 14 December 2011

2011-12-14T11:45:09Z

← Older revision		Revision as of 11:45, 14 December 2011
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	~~'''Unreleased structure'''~~		[[Image:2xt3.jpg\|left\|200px]]

	The ~~entry~~ 2xt3 ~~is ON HOLD~~ ~~until Paper Publication~~		<!--
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			{{STRUCTURE_2xt3\| PDB=2xt3 \| SCENE= }}

	~~Authors: Klejnot, M., Kozielski, F.~~		===KINESIN===

	~~Description~~: ~~Kinesin~~
			==About this Structure==
			[[2xt3]] is a 1 chain structure with 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=2XT3 OCA].
			[[Category: Homo sapiens]]
			[[Category: Klejnot, M.]]
			[[Category: Kozielski, F.]]
			[[Category: Motor protein]]
			[[Category: Signal transduction]]

← Older revision		Revision as of 12:16, 27 April 2022
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	<StructureSection load='2xt3' size='340' side='right'caption='[[2xt3]], [[Resolution\|resolution]] 1.88Å' scene=''>		<StructureSection load='2xt3' size='340' side='right'caption='[[2xt3]], [[Resolution\|resolution]] 1.88Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[2xt3]] is a 1 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=2XT3 OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://proteopedia.org/fgij/fg.htm?mol=2XT3 FirstGlance]. <br>		<table><tr><td colspan='2'>[[2xt3]] is a 1 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=2XT3 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2XT3 FirstGlance]. <br>
	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ADP:ADENOSINE-5-DIPHOSPHATE'>ADP</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene></td></tr>		</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ADP:ADENOSINE-5-DIPHOSPHATE'>ADP</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene></td></tr>
	<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[4a14\|4a14]]</td></tr>		<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat"><div style='overflow: auto; max-height: 3em;'>[[4a14\|4a14]]</div></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=2xt3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2xt3 OCA], [~~http~~://pdbe.org/2xt3 PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=2xt3 RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/2xt3 PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=2xt3 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=2xt3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2xt3 OCA], [https://pdbe.org/2xt3 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2xt3 RCSB], [https://www.ebi.ac.uk/pdbsum/2xt3 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2xt3 ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
	[[~~http~~://www.uniprot.org/uniprot/KIF7_HUMAN KIF7_HUMAN]] Joubert syndrome;Hydrolethalus;Joubert syndrome with ocular defect;Joubert syndrome with orofaciodigital defect;Multiple epiphyseal dysplasia, Al-Gazali type;Acrocallosal syndrome. Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, and hydrolethalus syndrome among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome influence the clinical outcome. Primary ciliopathy loci can be modulated by pathogenic lesions in other ciliary genes to either exacerbate overall severity or induce specific endophenotypes. KIF7 may be causally associated with diverse ciliopathies, and also acts as a modifier gene across the ciliopathy spectrum. The gene represented in this entry may act as a disease modifier. Heterozygous missense mutations in KIF7 may genetically interact with other BBS genes and contribute to disease manifestation and severity. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The gene represented in this entry may be involved in disease pathogenesis.		[[https://www.uniprot.org/uniprot/KIF7_HUMAN KIF7_HUMAN]] Joubert syndrome;Hydrolethalus;Joubert syndrome with ocular defect;Joubert syndrome with orofaciodigital defect;Multiple epiphyseal dysplasia, Al-Gazali type;Acrocallosal syndrome. Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, and hydrolethalus syndrome among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome influence the clinical outcome. Primary ciliopathy loci can be modulated by pathogenic lesions in other ciliary genes to either exacerbate overall severity or induce specific endophenotypes. KIF7 may be causally associated with diverse ciliopathies, and also acts as a modifier gene across the ciliopathy spectrum. The gene represented in this entry may act as a disease modifier. Heterozygous missense mutations in KIF7 may genetically interact with other BBS genes and contribute to disease manifestation and severity. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The gene represented in this entry may be involved in disease pathogenesis.
	== Function ==		== Function ==
	[[~~http~~://www.uniprot.org/uniprot/KIF7_HUMAN KIF7_HUMAN]] Acts as both a negative and positive regulator of sonic hedgehog (Shh) pathway, acting downstream of SMO. Negatively regulates the pathway by preventing inappropriate activation of the transcriptional activator GLI2 in the absence of ligand. Positively regulates the pathway by preventing the processing of the transcription factor GLI3 into its repressor form. Required for efficient localization of GLI3 to cilia in response to Shh. Affects microtubular dynamics and acts as a ciliary motor.<ref>PMID:21633164</ref>		[[https://www.uniprot.org/uniprot/KIF7_HUMAN KIF7_HUMAN]] Acts as both a negative and positive regulator of sonic hedgehog (Shh) pathway, acting downstream of SMO. Negatively regulates the pathway by preventing inappropriate activation of the transcriptional activator GLI2 in the absence of ligand. Positively regulates the pathway by preventing the processing of the transcription factor GLI3 into its repressor form. Required for efficient localization of GLI3 to cilia in response to Shh. Affects microtubular dynamics and acts as a ciliary motor.<ref>PMID:21633164</ref>
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">
	== Publication Abstract from PubMed ==		== Publication Abstract from PubMed ==