8q4j
From Proteopedia
(Difference between revisions)
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| - | '''Unreleased structure''' | ||
| - | The | + | ==The crystal structure of human chloride intracellular channel protein 5 delta 57-68 F34D mutant== |
| - | + | <StructureSection load='8q4j' size='340' side='right'caption='[[8q4j]], [[Resolution|resolution]] 2.51Å' scene=''> | |
| - | + | == Structural highlights == | |
| - | + | <table><tr><td colspan='2'>[[8q4j]] 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=8Q4J OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8Q4J 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]] 2.51Å</td></tr> | |
| - | [[Category: | + | <tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=SO4:SULFATE+ION'>SO4</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=8q4j FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8q4j OCA], [https://pdbe.org/8q4j PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8q4j RCSB], [https://www.ebi.ac.uk/pdbsum/8q4j PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8q4j ProSAT]</span></td></tr> | ||
| + | </table> | ||
| + | == Disease == | ||
| + | [https://www.uniprot.org/uniprot/CLIC5_HUMAN CLIC5_HUMAN] Autosomal recessive non-syndromic sensorineural deafness type DFNB. The disease is caused by mutations affecting the gene represented in this entry. | ||
| + | == Function == | ||
| + | [https://www.uniprot.org/uniprot/CLIC5_HUMAN CLIC5_HUMAN] Required for normal hearing (PubMed:24781754). It is necessary for the formation of stereocilia in the inner ear and normal development of the organ of Corti (By similarity). Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. May play a role in the regulation of transepithelial ion absorption and secretion. Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture (PubMed:15184393, PubMed:18028448, PubMed:20335315). Plays a role in formation of the lens suture in the eye, which is important for normal optical properties of the lens (By similarity).[UniProtKB:Q8BXK9]<ref>PMID:15184393</ref> <ref>PMID:18028448</ref> <ref>PMID:20335315</ref> <ref>PMID:24781754</ref> | ||
| + | == References == | ||
| + | <references/> | ||
| + | __TOC__ | ||
| + | </StructureSection> | ||
| + | [[Category: Homo sapiens]] | ||
| + | [[Category: Large Structures]] | ||
| + | [[Category: Giladi M]] | ||
| + | [[Category: Haitin Y]] | ||
| + | [[Category: Manori B]] | ||
Current revision
The crystal structure of human chloride intracellular channel protein 5 delta 57-68 F34D mutant
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