2qv2: Difference between revisions

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-{{Seed}}
-[[Image:2qv2.png|left|200px]]
-<!--
+==A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway==
-The line below this paragraph, containing "STRUCTURE_2qv2", creates the "Structure Box" on the page.
+<StructureSection load='2qv2' size='340' side='right'caption='[[2qv2]], [[Resolution|resolution]] 2.40&Aring;' scene=''>
-You may change the PDB parameter (which sets the PDB file loaded into the applet)
+== Structural highlights ==
-or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
+<table><tr><td colspan='2'>[[2qv2]] is a 1 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=2QV2 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2QV2 FirstGlance]. <br>
-or leave the SCENE parameter empty for the default display.
+</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.4&#8491;</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=2qv2 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2qv2 OCA], [https://pdbe.org/2qv2 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2qv2 RCSB], [https://www.ebi.ac.uk/pdbsum/2qv2 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2qv2 ProSAT]</span></td></tr>
-{{STRUCTURE_2qv2|  PDB=2qv2  |  SCENE=  }}
+</table>
+== Disease ==
+[https://www.uniprot.org/uniprot/OCRL_HUMAN OCRL_HUMAN] Defects in OCRL are the cause of Lowe oculocerebrorenal syndrome (OCRL) [MIM:[https://omim.org/entry/309000 309000]. It is an X-linked multisystem disorder affecting eyes, nervous system, and kidney. It is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, aminoaciduria, and reduced ammonia production by the kidney. Ocular abnormalities include cataract, glaucoma, microphthalmos, and decreased visual acuity. Developmental delay, hypotonia, behavior abnormalities, and areflexia are also present. Renal tubular involvement is characterized by impaired reabsorption of bicarbonate, amino acids, and phosphate. Musculoskeletal abnormalities such as joint hypermobility, dislocated hips, and fractures may develop as consequences of renal tubular acidosis and hypophosphatemia. Cataract is the only significant manifestation in carriers and is detected by slit-lamp examination.<ref>PMID:20133602</ref> <ref>PMID:21233288</ref> <ref>PMID:9199559</ref> <ref>PMID:9682219</ref> <ref>PMID:9632163</ref> <ref>PMID:9788721</ref> <ref>PMID:10923037</ref> <ref>PMID:10767176</ref> <ref>PMID:19168822</ref> <ref>PMID:21031565</ref>   Defects in OCRL are the cause of Dent disease type 2 (DD2) [MIM:[https://omim.org/entry/300555 300555]. DD2 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. Characteristic abnormalities include low-molecular-weight proteinuria and other features of Fanconi syndrome, such as glycosuria, aminoaciduria, and phosphaturia, but typically do not include proximal renal tubular acidosis. Progressive renal failure is common, as are nephrocalcinosis and kidney stones.<ref>PMID:21031565</ref> <ref>PMID:15627218</ref> <ref>PMID:17384968</ref>
+== Function ==
+[https://www.uniprot.org/uniprot/OCRL_HUMAN OCRL_HUMAN] Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate. May function in lysosomal membrane trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes. Involved in primary cilia assembly.<ref>PMID:22543976</ref> <ref>PMID:22228094</ref>
+== Evolutionary Conservation ==
+[[Image:Consurf_key_small.gif|200px|right]]
+Check<jmol>
+  <jmolCheckbox>
+    <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/qv/2qv2_consurf.spt"</scriptWhenChecked>
+    <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
+    <text>to colour the structure by Evolutionary Conservation</text>
+  </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/main_output.php?pdb_ID=2qv2 ConSurf].
+<div style="clear:both"></div>
-===A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway===
+==See Also==
+*[[3D structures of inositol polyphosphate 5-phosphatase OCRL|3D structures of inositol polyphosphate 5-phosphatase OCRL]]
+== References ==
-<!--
+<references/>
-The line below this paragraph, {{ABSTRACT_PUBMED_17765681}}, adds the Publication Abstract to the page
+__TOC__
-(as it appears on PubMed at http://www.pubmed.gov), where 17765681 is the PubMed ID number.
+</StructureSection>
--->
-{{ABSTRACT_PUBMED_17765681}}
-==About this Structure==
-QV2 is a 1 chain structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2QV2 OCA].
-==Reference==
-<ref group="xtra">PMID:17765681</ref><references group="xtra"/>
 [[Category: Homo sapiens]]
-[[Category: Phosphoinositide 5-phosphatase]]
+[[Category: Large Structures]]
-[[Category: Camilli, P De.]]
+[[Category: De Camilli P]]
-[[Category: Erdman, K S.]]
+[[Category: Erdman KS]]
-[[Category: Mao, Y.]]
+[[Category: Mao Y]]
-[[Category: McCrea, H J.]]
+[[Category: McCrea HJ]]
-[[Category: Appl1]]
-[[Category: Ash]]
-[[Category: Clathrin]]
-[[Category: Endocytosis]]
-[[Category: Hydrolase]]
-[[Category: Phosphoinositide]]
-[[Category: Rhogap]]
-''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Tue Feb 17 13:09:11 2009''