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==The Crystal Structure of the Second PDZ Domain of Human DLG3==
==The Crystal Structure of the Second PDZ Domain of Human DLG3==
<StructureSection load='2fe5' size='340' side='right' caption='[[2fe5]], [[Resolution|resolution]] 1.10&Aring;' scene=''>
<StructureSection load='2fe5' size='340' side='right'caption='[[2fe5]], [[Resolution|resolution]] 1.10&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[2fe5]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2FE5 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2FE5 FirstGlance]. <br>
<table><tr><td colspan='2'>[[2fe5]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2FE5 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2FE5 FirstGlance]. <br>
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></td></tr>
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></td></tr>
<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[2byg|2byg]]</td></tr>
<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat"><div style='overflow: auto; max-height: 3em;'>[[2byg|2byg]]</div></td></tr>
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">DLG3, KIAA1232 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">DLG3, KIAA1232 ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></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=2fe5 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2fe5 OCA], [http://pdbe.org/2fe5 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2fe5 RCSB], [http://www.ebi.ac.uk/pdbsum/2fe5 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2fe5 ProSAT]</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=2fe5 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2fe5 OCA], [https://pdbe.org/2fe5 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2fe5 RCSB], [https://www.ebi.ac.uk/pdbsum/2fe5 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2fe5 ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
[[http://www.uniprot.org/uniprot/DLG3_HUMAN DLG3_HUMAN]] Defects in DLG3 are the cause of mental retardation X-linked type 90 (MRX90) [MIM:[http://omim.org/entry/300850 300850]]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.<ref>PMID:15185169</ref>   
[[https://www.uniprot.org/uniprot/DLG3_HUMAN DLG3_HUMAN]] Defects in DLG3 are the cause of mental retardation X-linked type 90 (MRX90) [MIM:[https://omim.org/entry/300850 300850]]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.<ref>PMID:15185169</ref>   
== Function ==
== Function ==
[[http://www.uniprot.org/uniprot/DLG3_HUMAN DLG3_HUMAN]] Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling.  
[[https://www.uniprot.org/uniprot/DLG3_HUMAN DLG3_HUMAN]] Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling.  
== Evolutionary Conservation ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
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</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Human]]
[[Category: Large Structures]]
[[Category: Arrowsmith, C]]
[[Category: Arrowsmith, C]]
[[Category: Berridge, G]]
[[Category: Berridge, G]]

Revision as of 10:15, 24 February 2021

The Crystal Structure of the Second PDZ Domain of Human DLG3The Crystal Structure of the Second PDZ Domain of Human DLG3

Structural highlights

2fe5 is a 1 chain structure with sequence from Human. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Ligands:,
Gene:DLG3, KIAA1232 (HUMAN)
Resources:FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

[DLG3_HUMAN] Defects in DLG3 are the cause of mental retardation X-linked type 90 (MRX90) [MIM:300850]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.[1]

Function

[DLG3_HUMAN] Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling.

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

References

  1. Tarpey P, Parnau J, Blow M, Woffendin H, Bignell G, Cox C, Cox J, Davies H, Edkins S, Holden S, Korny A, Mallya U, Moon J, O'Meara S, Parker A, Stephens P, Stevens C, Teague J, Donnelly A, Mangelsdorf M, Mulley J, Partington M, Turner G, Stevenson R, Schwartz C, Young I, Easton D, Bobrow M, Futreal PA, Stratton MR, Gecz J, Wooster R, Raymond FL. Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. Am J Hum Genet. 2004 Aug;75(2):318-24. Epub 2004 Jun 7. PMID:15185169 doi:10.1086/422703

2fe5, resolution 1.10Å

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OCA