2eeh
From Proteopedia
(Difference between revisions)
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==Solution Structure of First PDZ domain of PDZ Domain Containing Protein 7== | ==Solution Structure of First PDZ domain of PDZ Domain Containing Protein 7== | ||
| - | <StructureSection load='2eeh' size='340' side='right' caption='[[2eeh]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | + | <StructureSection load='2eeh' size='340' side='right'caption='[[2eeh]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> |
== Structural highlights == | == Structural highlights == | ||
| - | <table><tr><td colspan='2'>[[2eeh]] is a 1 chain structure with sequence from [ | + | <table><tr><td colspan='2'>[[2eeh]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2EEH OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2EEH FirstGlance]. <br> |
| - | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">PDZK7 ([ | + | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">PDZK7 ([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'>[ | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2eeh FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2eeh OCA], [https://pdbe.org/2eeh PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2eeh RCSB], [https://www.ebi.ac.uk/pdbsum/2eeh PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2eeh ProSAT], [https://www.topsan.org/Proteins/RSGI/2eeh TOPSAN]</span></td></tr> |
</table> | </table> | ||
== Disease == | == Disease == | ||
| - | [[ | + | [[https://www.uniprot.org/uniprot/PDZD7_HUMAN PDZD7_HUMAN]] Usher syndrome type 2. A chromosomal aberration disrupting PDZD7 has been found in patients with non-syndromic sensorineural deafness. Translocation t(10;11),t(10;11). The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. PDZD7 mutations have been found in combination with mutations in USH2A and GPR98 in patients affected by Usher syndrome, suggesting a role as contributor to digenic Usher syndrome or a modifier of retinal disease expression. |
== 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: Inoue, M]] | [[Category: Inoue, M]] | ||
[[Category: Kigawa, T]] | [[Category: Kigawa, T]] | ||
Revision as of 12:03, 10 February 2021
Solution Structure of First PDZ domain of PDZ Domain Containing Protein 7
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