4a14 - Revision history

OCA at 11:17, 20 December 2023

2023-12-20T11:17:55Z

←Older revision		Revision as of 11:17, 20 December 2023
Line 3:		Line 3:
	<StructureSection load='4a14' size='340' side='right'caption='[[4a14]], [[Resolution\|resolution]] 1.60Å' scene=''>		<StructureSection load='4a14' size='340' side='right'caption='[[4a14]], [[Resolution\|resolution]] 1.60Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[4a14]] 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=4A14 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4A14 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[4a14]] 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=4A14 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4A14 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]] 1.6Å</td></tr>
-	<tr id='~~related~~'><td class="sblockLbl"><b>[[~~Related_structure~~\|~~Related~~:]]</b></td><td class="sblockDat"><~~div style~~='~~overflow~~: ~~auto; max~~-~~height~~: ~~3em;~~'>~~[[2xt3\|2xt3]]~~</~~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=4a14 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4a14 OCA], [https://pdbe.org/4a14 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4a14 RCSB], [https://www.ebi.ac.uk/pdbsum/4a14 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4a14 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=4a14 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4a14 OCA], [https://pdbe.org/4a14 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4a14 RCSB], [https://www.ebi.ac.uk/pdbsum/4a14 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4a14 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 ==
Line 28:		Line 28:
	__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: Kinesin]]~~	+
-	~~[[Category: Motor domain]]~~	+
-	~~[[Category: Motor protein~~]]	+

OCA at 07:38, 18 August 2022

2022-08-18T07:38:17Z

←Older revision		Revision as of 07:38, 18 August 2022
Line 1:		Line 1:

	==HUMAN KIF7, A KINESIN INVOLVED IN HEDGEHOG SIGNALLING==		==HUMAN KIF7, A KINESIN INVOLVED IN HEDGEHOG SIGNALLING==
-	<StructureSection load='4a14' size='340' side='right' caption='[[4a14]], [[Resolution\|resolution]] 1.60Å' scene=''>	+	<StructureSection load='4a14' size='340' side='right'caption='[[4a14]], [[Resolution\|resolution]] 1.60Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[4a14]] 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=4A14 OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=4A14 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[4a14]] 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=4A14 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4A14 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">[[2xt3\|2xt3]]</td></tr>	+	<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat"><div style='overflow: auto; max-height: 3em;'>[[2xt3\|2xt3]]</div></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=4a14 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4a14 OCA], [~~http~~://pdbe.org/4a14 PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=4a14 RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/4a14 PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=4a14 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=4a14 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4a14 OCA], [https://pdbe.org/4a14 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4a14 RCSB], [https://www.ebi.ac.uk/pdbsum/4a14 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4a14 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 ==
Line 23:		Line 23:

	==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]]

OCA at 16:43, 27 February 2019

2019-02-27T16:43:03Z

←Older revision		Revision as of 16:43, 27 February 2019
Line 21:		Line 21:
	</div>		</div>
	<div class="pdbe-citations 4a14" style="background-color:#fffaf0;"></div>		<div class="pdbe-citations 4a14" style="background-color:#fffaf0;"></div>
		+
		+	==See Also==
		+	*[[Kinesin\|Kinesin]]
	== References ==		== References ==
	<references/>		<references/>

OCA at 14:35, 11 August 2016

2016-08-11T14:35:39Z

←Older revision		Revision as of 14:35, 11 August 2016
Line 1:		Line 1:
		+
	==HUMAN KIF7, A KINESIN INVOLVED IN HEDGEHOG SIGNALLING==		==HUMAN KIF7, A KINESIN INVOLVED IN HEDGEHOG SIGNALLING==
	<StructureSection load='4a14' size='340' side='right' caption='[[4a14]], [[Resolution\|resolution]] 1.60Å' scene=''>		<StructureSection load='4a14' size='340' side='right' caption='[[4a14]], [[Resolution\|resolution]] 1.60Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[4a14]] 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=4A14 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4A14 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[4a14]] 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=4A14 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4A14 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">[[2xt3\|2xt3]]</td></tr>		<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[2xt3\|2xt3]]</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=4a14 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4a14 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=4a14 RCSB], [http://www.ebi.ac.uk/pdbsum/4a14 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=4a14 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4a14 OCA], [http://pdbe.org/4a14 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=4a14 RCSB], [http://www.ebi.ac.uk/pdbsum/4a14 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=4a14 ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 19:		Line 20:
	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 4a14" 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]]

OCA at 09:41, 4 January 2015

2015-01-04T09:41:03Z

←Older revision		Revision as of 09:41, 4 January 2015
Line 3:		Line 3:
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[4a14]] 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=4A14 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4A14 FirstGlance]. <br>		<table><tr><td colspan='2'>[[4a14]] 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=4A14 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4A14 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">[[2xt3\|2xt3]]</td></tr>	+	<tr id='related'><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[2xt3\|2xt3]]</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=4a14 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4a14 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=4a14 RCSB], [http://www.ebi.ac.uk/pdbsum/4a14 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=4a14 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4a14 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=4a14 RCSB], [http://www.ebi.ac.uk/pdbsum/4a14 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.
Line 24:		Line 24:
	</StructureSection>		</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
-	[[Category: Klejnot, M.]]	+	[[Category: Klejnot, M]]
-	[[Category: Kozielski, F.]]	+	[[Category: Kozielski, F]]
	[[Category: Kinesin]]		[[Category: Kinesin]]
	[[Category: Motor domain]]		[[Category: Motor domain]]
	[[Category: Motor protein]]		[[Category: Motor protein]]

OCA at 07:50, 5 June 2014

2014-06-05T07:50:14Z

←Older revision		Revision as of 07:50, 5 June 2014
Line 1:		Line 1:
-	[[~~Image:~~4a14.~~png~~\|~~left~~\|~~200px~~]]	+	==HUMAN KIF7, A KINESIN INVOLVED IN HEDGEHOG SIGNALLING==
		+	<StructureSection load='4a14' size='340' side='right' caption='[[4a14]], [[Resolution\|resolution]] 1.60Å' scene=''>
		+	== Structural highlights ==
		+	<table><tr><td colspan='2'>[[4a14]] 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=4A14 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4A14 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>
		+	<tr><td class="sblockLbl"><b>[[Related_structure\|Related:]]</b></td><td class="sblockDat">[[2xt3\|2xt3]]</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=4a14 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4a14 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=4a14 RCSB], [http://www.ebi.ac.uk/pdbsum/4a14 PDBsum]</span></td></tr>
		+	<table>
		+	== 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.
		+	== 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>
		+	<div style="background-color:#fffaf0;">
		+	== Publication Abstract from PubMed ==
		+	Kif7, a member of the kinesin 4 superfamily, is implicated in a variety of diseases including Joubert, hydrolethalus and acrocallosal syndromes. It is also involved in primary cilium formation and the Hedgehog signalling pathway and may play a role in cancer. Its activity is crucial for embryonic development. Kif7 and Kif27, a closely related kinesin in the same subfamily, are orthologues of the Drosophila melanogaster kinesin-like protein Costal-2 (Cos2). In vertebrates, they work together to fulfil the role of the single Cos2 gene in Drosophila. Here, the high-resolution structure of the human Kif7 motor domain is reported and is compared with that of conventional kinesin, the founding member of the kinesin superfamily. These data are a first step towards structural characterization of a kinesin-4 family member and of this interesting molecular motor of medical significance.

-	~~<!--~~	+	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>
-	~~The line below this paragraph~~, ~~containing "STRUCTURE_4a14"~~, ~~creates the "Structure Box" on the page~~.	+
-	~~You may change the PDB parameter~~ (~~which sets the PDB file loaded into the applet)~~	+
-	~~or the SCENE parameter (which sets the initial scene displayed when the page is loaded~~),	+
-	~~or leave the SCENE parameter empty for the default display~~.	+
-	-->	+
-	~~{{STRUCTURE_4a14\| PDB=4a14 \| SCENE= }}~~	+

-	~~===HUMAN KIF7~~, ~~A KINESIN INVOLVED IN HEDGEHOG SIGNALLING===~~	+	From MEDLINE®/PubMed®, 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>
-	-->	+
-	~~{{ABSTRACT_PUBMED_22281744}}~~	+
-		+
-	~~==About this Structure==~~	+
-	~~[[4a14]] 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=4A14 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 06:03, 15 February 2012

2012-02-15T06:03:34Z

←Older revision		Revision as of 06:03, 15 February 2012
Line 9:		Line 9:
	{{STRUCTURE_4a14\| PDB=4a14 \| SCENE= }}		{{STRUCTURE_4a14\| PDB=4a14 \| 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==
	[[4a14]] 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=4A14 OCA].		[[4a14]] 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=4A14 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 07:33, 1 February 2012

2012-02-01T07:33:26Z

←Older revision		Revision as of 07:33, 1 February 2012
Line 1:		Line 1:
-	[[Image:4a14.~~jpg~~\|left\|200px]]	+	[[Image:4a14.png\|left\|200px]]

	<!--		<!--

OCA at 06:50, 25 January 2012

2012-01-25T06:50:46Z

←Older revision		Revision as of 06:50, 25 January 2012
Line 1:		Line 1:
-	~~'''Unreleased structure'''~~	+	[[Image:4a14.jpg\|left\|200px]]

-	The ~~entry 4a14~~ is ~~ON HOLD~~ ~~until Paper Publication~~	+	<!--
		+	The line below this paragraph, containing "STRUCTURE_4a14", creates the "Structure Box" on the page.
		+	You may change the PDB parameter (which sets the PDB file loaded into the applet)
		+	or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
		+	or leave the SCENE parameter empty for the default display.
		+	-->
		+	{{STRUCTURE_4a14\| PDB=4a14 \| SCENE= }}

-	~~Authors: Klejnot, M., Kozielski, F.~~	+	===Kinesin===

-	~~Description~~: Kinesin	+
		+	==About this Structure==
		+	[[4a14]] 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=4A14 OCA].
		+	[[Category: Homo sapiens]]
		+	[[Category: Klejnot, M.]]
		+	[[Category: Kozielski, F.]]
		+	[[Category: Kinesin]]
		+	[[Category: Motor domain]]
		+	[[Category: Motor protein]]

OCA: Protected "4a14" [edit=sysop:move=sysop]

2011-09-21T05:38:30Z

Protected "4a14" [edit=sysop:move=sysop]

←Older revision

Revision as of 05:38, 21 September 2011