2j9l
From Proteopedia
(Difference between revisions)
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<StructureSection load='2j9l' size='340' side='right'caption='[[2j9l]], [[Resolution|resolution]] 2.30Å' scene=''> | <StructureSection load='2j9l' size='340' side='right'caption='[[2j9l]], [[Resolution|resolution]] 2.30Å' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
| - | <table><tr><td colspan='2'>[[2j9l]] is a 6 chain structure with sequence from [https://en.wikipedia.org/wiki/ | + | <table><tr><td colspan='2'>[[2j9l]] 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=2J9L OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2J9L FirstGlance]. <br> |
| - | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ATP:ADENOSINE-5-TRIPHOSPHATE'>ATP</scene>, <scene name='pdbligand=CL:CHLORIDE+ION'>CL</scene></td></tr> | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.3Å</td></tr> |
| + | <tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ATP:ADENOSINE-5-TRIPHOSPHATE'>ATP</scene>, <scene name='pdbligand=CL:CHLORIDE+ION'>CL</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=2j9l FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2j9l OCA], [https://pdbe.org/2j9l PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2j9l RCSB], [https://www.ebi.ac.uk/pdbsum/2j9l PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2j9l 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=2j9l FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2j9l OCA], [https://pdbe.org/2j9l PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2j9l RCSB], [https://www.ebi.ac.uk/pdbsum/2j9l PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2j9l ProSAT]</span></td></tr> | ||
</table> | </table> | ||
== Disease == | == 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 == | == 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]] | ||
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__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
| - | [[Category: | + | [[Category: Homo sapiens]] |
[[Category: Large Structures]] | [[Category: Large Structures]] | ||
| - | [[Category: Dutzler | + | [[Category: Dutzler R]] |
| - | [[Category: Forster | + | [[Category: Forster IC]] |
| - | [[Category: Meyer | + | [[Category: Meyer S]] |
| - | [[Category: Savaresi | + | [[Category: Savaresi S]] |
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Current revision
Cytoplasmic Domain of the Human Chloride Transporter ClC-5 in complex with ATP
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