3c0g: Difference between revisions

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==CASK CaM-Kinase Domain- 3'-AMP complex, P1 form==
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<StructureSection load='3c0g' size='340' side='right'caption='[[3c0g]], [[Resolution|resolution]] 2.19&Aring;' scene=''>
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== Structural highlights ==
or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
<table><tr><td colspan='2'>[[3c0g]] is a 2 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=3C0G OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3C0G FirstGlance]. <br>
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.19&#8491;</td></tr>
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<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=3AM:[(2R,3S,4R,5R)-5-(6-AMINOPURIN-9-YL)-4-HYDROXY-2-(HYDROXYMETHYL)OXOLAN-3-YL]+DIHYDROGEN+PHOSPHATE'>3AM</scene></td></tr>
{{STRUCTURE_3c0g| PDB=3c0g |  SCENE= }}
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=3c0g FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3c0g OCA], [https://pdbe.org/3c0g PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3c0g RCSB], [https://www.ebi.ac.uk/pdbsum/3c0g PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3c0g 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>
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    <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/c0/3c0g_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=3c0g ConSurf].
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===CASK CaM-Kinase Domain- 3'-AMP complex, P1 form===
==See Also==
 
*[[Calcium/calmodulin dependent protein kinase 3D structures|Calcium/calmodulin dependent protein kinase 3D structures]]
 
== References ==
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{{ABSTRACT_PUBMED_18423203}}
 
==Disease==
Known disease associated with this structure: Mental retardation and microcephaly with pontine and cerebellar hypoplasia OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300172 300172]]
 
==About this Structure==
3C0G is a 2 chains structure of sequences 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=3C0G OCA].
 
==Reference==
<ref group="xtra">PMID:18423203</ref><references group="xtra"/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Non-specific serine/threonine protein kinase]]
[[Category: Large Structures]]
[[Category: Wahl, M C.]]
[[Category: Wahl MC]]
[[Category: Alternative splicing]]
[[Category: Atp-binding]]
[[Category: Ca2+/calmodulin dependent protein kinase]]
[[Category: Calmodulin-binding]]
[[Category: Cask]]
[[Category: Cytoplasm]]
[[Category: Magnesium]]
[[Category: Maguk]]
[[Category: Membrane-associated guanylate kinase]]
[[Category: Metal-binding]]
[[Category: Mg2+]]
[[Category: Neurexin]]
[[Category: Nucleotide-binding]]
[[Category: Nucleus]]
[[Category: Pseudokinase]]
[[Category: Serine/threonine-protein kinase]]
[[Category: Sh3 domain]]
[[Category: Synaptic plasticity]]
[[Category: Transferase]]
 
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