2ja3
From Proteopedia
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| - | == | + | |
| - | <StructureSection load='2ja3' size='340' side='right' caption='[[2ja3]], [[Resolution|resolution]] 3.05Å' scene=''> | + | ==Cytoplasmic Domain of the Human Chloride Transporter ClC-5 in complex with ADP== |
| + | <StructureSection load='2ja3' size='340' side='right'caption='[[2ja3]], [[Resolution|resolution]] 3.05Å' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
| - | <table><tr><td colspan='2'>[[2ja3]] is a 6 chain structure with sequence from [ | + | <table><tr><td colspan='2'>[[2ja3]] is a 6 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=2JA3 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2JA3 FirstGlance]. <br> |
| - | </td></tr><tr><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=ADP:ADENOSINE-5-DIPHOSPHATE'>ADP</scene>< | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 3.05Å</td></tr> |
| - | <tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[ | + | <tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ADP:ADENOSINE-5-DIPHOSPHATE'>ADP</scene></td></tr> |
| - | <table> | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2ja3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2ja3 OCA], [https://pdbe.org/2ja3 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2ja3 RCSB], [https://www.ebi.ac.uk/pdbsum/2ja3 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2ja3 ProSAT]</span></td></tr> |
| + | </table> | ||
| + | == Disease == | ||
| + | [https://www.uniprot.org/uniprot/CLCN5_HUMAN CLCN5_HUMAN] Defects in CLCN5 are a cause of hypophosphatemic rickets, X-linked recessive (XLRHR) [MIM:[https://omim.org/entry/300554 300554]. XLRHR is a renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. XLRH patients present with rickets or osteomalacia, hypophosphatemia due to decreased renal tubular phosphate reabsorption, hypercalciuria, and low molecular weight proteinuria. Patients develop nephrocalcinosis with progressive renal failure in adulthood. Female carriers may have asymptomatic hypercalciuria or hypophosphatemia only.<ref>PMID:8559248</ref> <ref>PMID:21305656</ref> Defects in CLCN5 are the cause of nephrolithiasis type 2 (NPHL2) [MIM:[https://omim.org/entry/300009 300009]; also known as Dent disease 1. NPHL2 is an X-linked recessive renal disease belonging to the 'Dent disease complex'. NPHL2 patients manifest hypercalciuria, hypophosphatemia, aminoaciduria, nephrocalcinosis and nephrolithiasis, renal insufficiency leading to renal failure in adulthood, rickets (33% of patients) and osteomalacia.<ref>PMID:19019917</ref> <ref>PMID:8559248</ref> <ref>PMID:21305656</ref> <ref>PMID:9187673</ref> <ref>PMID:9259268</ref> <ref>PMID:9602200</ref> <ref>PMID:9853249</ref> <ref>PMID:15086899</ref> <ref>PMID:16247550</ref> <ref>PMID:16822791</ref> <ref>PMID:16416111</ref> <ref>PMID:17262170</ref> <ref>PMID:19657328</ref> Defects in CLCN5 are the cause of nephrolithiasis type 1 (NPHL1) [MIM:[https://omim.org/entry/310468 310468]; also designated XRN. NPHL1 is an X-linked recessive renal disease belonging to the 'Dent disease complex'. NPHL1 presents with hypercalciuria, nephrocalcinosis, renal stones and renal insufficiency. Patients lack urinary acidification defects, rickets, and osteomalacia.<ref>PMID:8559248</ref> Defects in CLCN5 are the cause of low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:[https://omim.org/entry/308990 308990]. LMWPHN is an X-linked renal disease belonging to the 'Dent disease complex'. Patients tend to have hypercalciuric nephrocalcinosis without rickets or renal failure.<ref>PMID:19019917</ref> <ref>PMID:9062355</ref> <ref>PMID:11136179</ref> | ||
| + | == Function == | ||
| + | [https://www.uniprot.org/uniprot/CLCN5_HUMAN CLCN5_HUMAN] Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acidification of the endosome lumen. May play an important role in renal tubular function. | ||
== Evolutionary Conservation == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] | ||
Check<jmol> | Check<jmol> | ||
<jmolCheckbox> | <jmolCheckbox> | ||
| - | <scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/ja/2ja3_consurf.spt"</scriptWhenChecked> | + | <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/ja/2ja3_consurf.spt"</scriptWhenChecked> |
<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked> | <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked> | ||
<text>to colour the structure by Evolutionary Conservation</text> | <text>to colour the structure by Evolutionary Conservation</text> | ||
</jmolCheckbox> | </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/ | + | </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=2ja3 ConSurf]. |
<div style="clear:both"></div> | <div style="clear:both"></div> | ||
<div style="background-color:#fffaf0;"> | <div style="background-color:#fffaf0;"> | ||
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br> | From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br> | ||
</div> | </div> | ||
| + | <div class="pdbe-citations 2ja3" style="background-color:#fffaf0;"></div> | ||
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| + | ==See Also== | ||
| + | *[[Ion channels 3D structures|Ion channels 3D structures]] | ||
== References == | == References == | ||
<references/> | <references/> | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
| - | [[Category: | + | [[Category: Large Structures]] |
| - | [[Category: | + | [[Category: Dutzler R]] |
| - | [[Category: | + | [[Category: Forster IC]] |
| - | [[Category: | + | [[Category: Meyer S]] |
| - | [[Category: | + | [[Category: Savaresi S]] |
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Current revision
Cytoplasmic Domain of the Human Chloride Transporter ClC-5 in complex with ADP
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