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| - | | + | #REDIRECT [[5kcj]] This PDB entry is obsolete and replaced by 5kcj |
| - | ==Structure of the human GluN1/GluN2A LBD in complex with GNE6901==
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| - | <StructureSection load='5h8r' size='340' side='right' caption='[[5h8r]], [[Resolution|resolution]] 2.09Å' scene=''>
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| - | == Structural highlights ==
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| - | <table><tr><td colspan='2'>[[5h8r]] is a 2 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5H8R OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5H8R FirstGlance]. <br>
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| - | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=5YF:7-[(4-FLUORANYLPHENOXY)METHYL]-3-[(1~{S},2~{S})-2-(HYDROXYMETHYL)CYCLOPROPYL]-2-METHYL-[1,3]THIAZOLO[3,2-A]PYRIMIDIN-5-ONE'>5YF</scene>, <scene name='pdbligand=ACT:ACETATE+ION'>ACT</scene>, <scene name='pdbligand=GLU:GLUTAMIC+ACID'>GLU</scene>, <scene name='pdbligand=GLY:GLYCINE'>GLY</scene></td></tr>
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| - | <tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[5h8f|5h8f]], [[5h8h|5h8h]], [[5h8n|5h8n]], [[5h8q|5h8q]], [[5h8s|5h8s]]</td></tr>
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| - | <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=5h8r FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5h8r OCA], [http://pdbe.org/5h8r PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=5h8r RCSB], [http://www.ebi.ac.uk/pdbsum/5h8r PDBsum]</span></td></tr>
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| - | </table>
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| - | == Disease ==
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| - | [[http://www.uniprot.org/uniprot/NMDE1_HUMAN NMDE1_HUMAN]] Landau-Kleffner syndrome;Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation;Continuous spikes and waves during sleep;Rolandic epilepsy;Rolandic epilepsy - speech dyspraxia. The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving GRIN2A has been found in a family with epilepsy and neurodevelopmental defects. Translocation t(16;17)(p13.2;q11.2). GRIN2A somatic mutations have been frequently found in cutaneous malignant melanoma, suggesting that the glutamate signaling pathway may play a role in the pathogenesis of melanoma.<ref>PMID:21499247</ref> <ref>PMID:24455489</ref> [[http://www.uniprot.org/uniprot/NMDZ1_HUMAN NMDZ1_HUMAN]] Defects in GRIN1 are the cause of mental retardation autosomal dominant type 8 (MRD8) [MIM:[http://omim.org/entry/614254 614254]]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.<ref>PMID:21376300</ref>
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| - | == Function ==
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| - | [[http://www.uniprot.org/uniprot/NMDE1_HUMAN NMDE1_HUMAN]] NMDA receptor subtype of glutamate-gated ion channels possesses high calcium permeability and voltage-dependent sensitivity to magnesium. Activation requires binding of agonist to both types of subunits. [[http://www.uniprot.org/uniprot/NMDZ1_HUMAN NMDZ1_HUMAN]] NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Mediated by glycine. This protein plays a key role in synaptic plasticity, synaptogenesis, excitotoxicity, memory acquisition and learning. It mediates neuronal functions in glutamate neurotransmission. Is involved in the cell surface targeting of NMDA receptors (By similarity).
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| - | == References ==
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| - | <references/>
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| - | __TOC__
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| - | </StructureSection>
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| - | [[Category: Lupardus, P J]]
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| - | [[Category: Wallweber, H J.A]]
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| - | [[Category: Glun1]]
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| - | [[Category: Glun2a]]
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| - | [[Category: Nmda]]
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| - | [[Category: Receptor]]
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| - | [[Category: Transport protein]]
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