2xt3
From Proteopedia
(Difference between revisions)
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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>< | + | </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 | + | <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> |
| - | + | </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 | + | 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]] | ||
Revision as of 22:59, 3 January 2015
HUMAN KIF7, A KINESIN INVOLVED IN HEDGEHOG SIGNALLING
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