3qis

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{{STRUCTURE_3qis| PDB=3qis | SCENE= }}
 
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===Recognition of the F&H motif by the Lowe Syndrome protein OCRL===
 
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{{ABSTRACT_PUBMED_21666675}}
 
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==Disease==
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==Recognition of the F&H motif by the Lowe Syndrome protein OCRL==
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[[http://www.uniprot.org/uniprot/OCRL_HUMAN OCRL_HUMAN]] Defects in OCRL are the cause of Lowe oculocerebrorenal syndrome (OCRL) [MIM:[http://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:[http://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>
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<StructureSection load='3qis' size='340' side='right'caption='[[3qis]], [[Resolution|resolution]] 2.30&Aring;' scene=''>
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== Structural highlights ==
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<table><tr><td colspan='2'>[[3qis]] 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=3QIS OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3QIS FirstGlance]. <br>
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.3&#8491;</td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=3qis FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3qis OCA], [https://pdbe.org/3qis PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3qis RCSB], [https://www.ebi.ac.uk/pdbsum/3qis PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3qis ProSAT]</span></td></tr>
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</table>
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== Disease ==
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[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>
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== Function ==
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[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>
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==Function==
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==See Also==
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[[http://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>
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*[[Inositol polyphosphate 5-phosphatase OCRL|Inositol polyphosphate 5-phosphatase OCRL]]
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*[[3D structures of inositol polyphosphate 5-phosphatase OCRL|3D structures of inositol polyphosphate 5-phosphatase OCRL]]
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==About this Structure==
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== References ==
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[[3qis]] is a 2 chain structure with 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=3QIS OCA].
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<references/>
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__TOC__
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==Reference==
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</StructureSection>
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<ref group="xtra">PMID:021666675</ref><references group="xtra"/><references/>
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[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Phosphoinositide 5-phosphatase]]
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[[Category: Large Structures]]
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[[Category: Camilli, P De.]]
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[[Category: De Camilli P]]
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[[Category: Folta-Stogniew, E.]]
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[[Category: Folta-Stogniew E]]
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[[Category: Pirruccello, M.]]
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[[Category: Pirruccello M]]
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[[Category: Swan, L E.]]
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[[Category: Swan LE]]
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[[Category: Appl1]]
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[[Category: Dent disease]]
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[[Category: Endocytic pathway]]
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[[Category: Golgi complex]]
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[[Category: Hydrolase-protein binding complex]]
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[[Category: Rab gtpase]]
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[[Category: Rac1]]
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[[Category: Ses2]]
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Current revision

Recognition of the F&H motif by the Lowe Syndrome protein OCRL

PDB ID 3qis

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