2fh4

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{{STRUCTURE_2fh4| PDB=2fh4 | SCENE= }}
 
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===C-terminal half of gelsolin soaked in EGTA at pH 8===
 
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{{ABSTRACT_PUBMED_16466744}}
 
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==Disease==
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==C-terminal half of gelsolin soaked in EGTA at pH 8==
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[[http://www.uniprot.org/uniprot/GELS_HUMAN GELS_HUMAN]] Defects in GSN are the cause of amyloidosis type 5 (AMYL5) [MIM:[http://omim.org/entry/105120 105120]]; also known as familial amyloidosis Finnish type. AMYL5 is a hereditary generalized amyloidosis due to gelsolin amyloid deposition. It is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure.<ref>PMID:2157434</ref><ref>PMID:2153578</ref><ref>PMID:2176481</ref><ref>PMID:1338910</ref>
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<StructureSection load='2fh4' size='340' side='right'caption='[[2fh4]], [[Resolution|resolution]] 3.00&Aring;' scene=''>
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== Structural highlights ==
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==Function==
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<table><tr><td colspan='2'>[[2fh4]] is a 3 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=2FH4 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2FH4 FirstGlance]. <br>
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[[http://www.uniprot.org/uniprot/GELS_HUMAN GELS_HUMAN]] Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into filaments (nucleation) as well as sever filaments already formed. Plays a role in ciliogenesis.<ref>PMID:20393563</ref>
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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]] 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=2fh4 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2fh4 OCA], [https://pdbe.org/2fh4 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2fh4 RCSB], [https://www.ebi.ac.uk/pdbsum/2fh4 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2fh4 ProSAT]</span></td></tr>
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==About this Structure==
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</table>
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[[2fh4]] is a 3 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=2FH4 OCA].
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== Disease ==
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[https://www.uniprot.org/uniprot/GELS_HUMAN GELS_HUMAN] Defects in GSN are the cause of amyloidosis type 5 (AMYL5) [MIM:[https://omim.org/entry/105120 105120]; also known as familial amyloidosis Finnish type. AMYL5 is a hereditary generalized amyloidosis due to gelsolin amyloid deposition. It is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure.<ref>PMID:2157434</ref> <ref>PMID:2153578</ref> <ref>PMID:2176481</ref> <ref>PMID:1338910</ref>
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== Function ==
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[https://www.uniprot.org/uniprot/GELS_HUMAN GELS_HUMAN] Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into filaments (nucleation) as well as sever filaments already formed. Plays a role in ciliogenesis.<ref>PMID:20393563</ref>
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== Evolutionary Conservation ==
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[[Image:Consurf_key_small.gif|200px|right]]
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Check<jmol>
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<jmolCheckbox>
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<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/fh/2fh4_consurf.spt"</scriptWhenChecked>
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
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<text>to colour the structure by Evolutionary Conservation</text>
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</jmolCheckbox>
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</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=2fh4 ConSurf].
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<div style="clear:both"></div>
==See Also==
==See Also==
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*[[Gelsolin|Gelsolin]]
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*[[Gelsolin 3D structures|Gelsolin 3D structures]]
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== References ==
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==Reference==
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<references/>
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<ref group="xtra">PMID:016466744</ref><references group="xtra"/><references/>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Burtnick, L D.]]
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[[Category: Large Structures]]
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[[Category: Choe, H.]]
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[[Category: Burtnick LD]]
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[[Category: Chumnarnsilpa, S.]]
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[[Category: Choe H]]
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[[Category: Loonchanta, A.]]
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[[Category: Chumnarnsilpa S]]
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[[Category: Robinson, R C.]]
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[[Category: Loonchanta A]]
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[[Category: Urosev, D.]]
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[[Category: Robinson RC]]
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[[Category: Wang, H.]]
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[[Category: Urosev D]]
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[[Category: Xue, B.]]
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[[Category: Wang H]]
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[[Category: Contractile protein]]
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[[Category: Xue B]]
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[[Category: Egta]]
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[[Category: Gelsolin]]
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Current revision

C-terminal half of gelsolin soaked in EGTA at pH 8

PDB ID 2fh4

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