1x4u
From Proteopedia
(Difference between revisions)
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- | + | ==Solution structure of the FYVE domain from human FYVE domain containing 27 isoform b protein== | |
- | + | <StructureSection load='1x4u' size='340' side='right' caption='[[1x4u]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | |
- | + | == Structural highlights == | |
- | ==Disease== | + | <table><tr><td colspan='2'>[[1x4u]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1X4U OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1X4U FirstGlance]. <br> |
- | [[http://www.uniprot.org/uniprot/ZFY27_HUMAN ZFY27_HUMAN]] Defects in ZFYVE27 are the cause of spastic paraplegia autosomal dominant type 33 (SPG33) [MIM:[http://omim.org/entry/610244 610244]]. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Note=According to PubMed:18606302, the properties of the variant Val-191 and its frequency in some populations raise doubts on the implication of that gene in the disease.<ref>PMID:16826525</ref><ref>PMID:18606302</ref> | + | </td></tr><tr><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=ZN:ZINC+ION'>ZN</scene><br> |
- | + | <tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">ZFYVE27 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> | |
- | ==Function== | + | <tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1x4u FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1x4u OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1x4u RCSB], [http://www.ebi.ac.uk/pdbsum/1x4u PDBsum], [http://www.topsan.org/Proteins/RSGI/1x4u TOPSAN]</span></td></tr> |
- | [[http://www.uniprot.org/uniprot/ZFY27_HUMAN ZFY27_HUMAN]] Functions as an upstream inhibitor of RAB11, regulating directional protein transport to the forming neurites. Involved in nerve growth factor-induced neurite formation. May have a more general role in cell projections formation.<ref>PMID:17082457</ref><ref>PMID:19289470</ref> | + | <table> |
- | + | == Disease == | |
- | == | + | [[http://www.uniprot.org/uniprot/ZFY27_HUMAN ZFY27_HUMAN]] Defects in ZFYVE27 are the cause of spastic paraplegia autosomal dominant type 33 (SPG33) [MIM:[http://omim.org/entry/610244 610244]]. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Note=According to PubMed:18606302, the properties of the variant Val-191 and its frequency in some populations raise doubts on the implication of that gene in the disease.<ref>PMID:16826525</ref> <ref>PMID:18606302</ref> |
- | [[ | + | == Function == |
- | + | [[http://www.uniprot.org/uniprot/ZFY27_HUMAN ZFY27_HUMAN]] Functions as an upstream inhibitor of RAB11, regulating directional protein transport to the forming neurites. Involved in nerve growth factor-induced neurite formation. May have a more general role in cell projections formation.<ref>PMID:17082457</ref> <ref>PMID:19289470</ref> | |
- | == | + | == Evolutionary Conservation == |
- | <references | + | [[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/x4/1x4u_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/chain_selection.php?pdb_ID=2ata ConSurf]. | ||
+ | <div style="clear:both"></div> | ||
+ | == References == | ||
+ | <references/> | ||
+ | __TOC__ | ||
+ | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Inoue, M.]] | [[Category: Inoue, M.]] |
Revision as of 19:34, 29 September 2014
Solution structure of the FYVE domain from human FYVE domain containing 27 isoform b protein
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Categories: Homo sapiens | Inoue, M. | Kigawa, T. | Koshiba, S. | RSGI, RIKEN Structural Genomics/Proteomics Initiative. | Tomizawa, T. | Yokoyama, S. | Fyve domain | Lipid binding protein | National project on protein structural and functional analyse | Nppsfa | Phosphoinositide binding | Riken structural genomics/proteomics initiative | Rsgi | Structural genomic | Zinc binding