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1kgd
From Proteopedia
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| - | [[Image:1kgd.jpg|left|200px]]<br /><applet load="1kgd" size="350" color="white" frame="true" align="right" spinBox="true" | ||
| - | caption="1kgd, resolution 1.314Å" /> | ||
| - | '''Crystal Structure of the Guanylate Kinase-like Domain of Human CASK'''<br /> | ||
| - | == | + | ==Crystal Structure of the Guanylate Kinase-like Domain of Human CASK== |
| - | + | <StructureSection load='1kgd' size='340' side='right'caption='[[1kgd]], [[Resolution|resolution]] 1.31Å' scene=''> | |
| - | + | == Structural highlights == | |
| - | == | + | <table><tr><td colspan='2'>[[1kgd]] 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=1KGD OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1KGD FirstGlance]. <br> |
| - | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.314Å</td></tr> | |
| - | + | <tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=FMT:FORMIC+ACID'>FMT</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=1kgd FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1kgd OCA], [https://pdbe.org/1kgd PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1kgd RCSB], [https://www.ebi.ac.uk/pdbsum/1kgd PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1kgd ProSAT]</span></td></tr> |
| - | + | </table> | |
| + | == Disease == | ||
| + | [https://www.uniprot.org/uniprot/CSKP_HUMAN CSKP_HUMAN] Defects in CASK are the cause of mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:[https://omim.org/entry/300749 300749]. A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Patients with mental retardation X-linked CASK-related can manifest a severe phenotype consisting of severe intellectual deficit, congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia. A milder phenotype consists of mental retardation alone or associated with nystagmus.<ref>PMID:19165920</ref> Defects in CASK are the cause of FG syndrome type 4 (FGS4) [MIM:[https://omim.org/entry/300422 300422]. FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation.<ref>PMID:19200522</ref> | ||
| + | == Function == | ||
| + | [https://www.uniprot.org/uniprot/CSKP_HUMAN CSKP_HUMAN] Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. Contributes to neural development and regulation of gene expression via interaction with the transcription factor TRB1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1. | ||
| + | == Evolutionary Conservation == | ||
| + | [[Image:Consurf_key_small.gif|200px|right]] | ||
| + | Check<jmol> | ||
| + | <jmolCheckbox> | ||
| + | <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/kg/1kgd_consurf.spt"</scriptWhenChecked> | ||
| + | <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked> | ||
| + | <text>to colour the structure by Evolutionary Conservation</text> | ||
| + | </jmolCheckbox> | ||
| + | </jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/main_output.php?pdb_ID=1kgd ConSurf]. | ||
| + | <div style="clear:both"></div> | ||
| + | == References == | ||
| + | <references/> | ||
| + | __TOC__ | ||
| + | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
| - | [[Category: | + | [[Category: Large Structures]] |
| - | [[Category: Konrad | + | [[Category: Konrad M]] |
| - | [[Category: Lavie | + | [[Category: Lavie A]] |
| - | [[Category: Li | + | [[Category: Li Y]] |
| - | [[Category: Paarmann | + | [[Category: Paarmann I]] |
| - | [[Category: Spangenberg | + | [[Category: Spangenberg O]] |
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Current revision
Crystal Structure of the Guanylate Kinase-like Domain of Human CASK
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Categories: Homo sapiens | Large Structures | Konrad M | Lavie A | Li Y | Paarmann I | Spangenberg O

