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==Solution structure of RSGI RUH-070, a C-terminal domain of kinesin-like protein KIF22 from human cDNA== | ==Solution structure of RSGI RUH-070, a C-terminal domain of kinesin-like protein KIF22 from human cDNA== | ||
<StructureSection load='2edu' size='340' side='right'caption='[[2edu | <StructureSection load='2edu' size='340' side='right'caption='[[2edu]]' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2edu]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/ | <table><tr><td colspan='2'>[[2edu]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2EDU OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2EDU FirstGlance]. <br> | ||
</td></tr><tr id=' | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</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=2edu FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2edu OCA], [https://pdbe.org/2edu PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2edu RCSB], [https://www.ebi.ac.uk/pdbsum/2edu PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2edu ProSAT], [https://www.topsan.org/Proteins/RSGI/2edu TOPSAN]</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=2edu FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2edu OCA], [https://pdbe.org/2edu PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2edu RCSB], [https://www.ebi.ac.uk/pdbsum/2edu PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2edu ProSAT], [https://www.topsan.org/Proteins/RSGI/2edu TOPSAN]</span></td></tr> | ||
</table> | </table> | ||
== Disease == | == Disease == | ||
[https://www.uniprot.org/uniprot/KIF22_HUMAN KIF22_HUMAN] Defects in KIF22 are the cause of spondyloepimetaphyseal dysplasia with joint laxity, type 2 (SEMDJL2) [MIM:[https://omim.org/entry/603546 603546]. A bone disease characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly. The most distinctive features for differential diagnosis of SEMDJL2 are the slender metacarpals and phalanges and the progressive degeneration of carpal bones; however, these 2 features are evident only in older children and young adults. The soft consistency of cartilage in the airways leads to laryngotracheomalacia with proneness to respiratory obstruction and inspiratory stridor in infancy and childhood.<ref>PMID:22152677</ref> <ref>PMID:22152678</ref> | |||
== Function == | == Function == | ||
[https://www.uniprot.org/uniprot/KIF22_HUMAN KIF22_HUMAN] Kinesin family that is involved in spindle formation and the movements of chromosomes during mitosis and meiosis. Binds to microtubules and to DNA. | |||
== Evolutionary Conservation == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] | ||
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__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
[[Category: | [[Category: Homo sapiens]] | ||
[[Category: Large Structures]] | [[Category: Large Structures]] | ||
[[Category: Abe | [[Category: Abe T]] | ||
[[Category: Hayashi | [[Category: Hayashi F]] | ||
[[Category: Hirota | [[Category: Hirota H]] | ||
[[Category: Yokoyama S]] | |||
[[Category: Yokoyama | |||
Latest revision as of 21:49, 29 May 2024
Solution structure of RSGI RUH-070, a C-terminal domain of kinesin-like protein KIF22 from human cDNASolution structure of RSGI RUH-070, a C-terminal domain of kinesin-like protein KIF22 from human cDNA
Structural highlights
DiseaseKIF22_HUMAN Defects in KIF22 are the cause of spondyloepimetaphyseal dysplasia with joint laxity, type 2 (SEMDJL2) [MIM:603546. A bone disease characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly. The most distinctive features for differential diagnosis of SEMDJL2 are the slender metacarpals and phalanges and the progressive degeneration of carpal bones; however, these 2 features are evident only in older children and young adults. The soft consistency of cartilage in the airways leads to laryngotracheomalacia with proneness to respiratory obstruction and inspiratory stridor in infancy and childhood.[1] [2] FunctionKIF22_HUMAN Kinesin family that is involved in spindle formation and the movements of chromosomes during mitosis and meiosis. Binds to microtubules and to DNA. Evolutionary Conservation Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. See AlsoReferences
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