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3hg5

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{{Seed}}
 
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[[Image:3hg5.png|left|200px]]
 
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==Human alpha-galactosidase catalytic mechanism 4. Product bound==
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The line below this paragraph, containing "STRUCTURE_3hg5", creates the "Structure Box" on the page.
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<StructureSection load='3hg5' size='340' side='right'caption='[[3hg5]], [[Resolution|resolution]] 2.30&Aring;' scene=''>
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You may change the PDB parameter (which sets the PDB file loaded into the applet)
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== Structural highlights ==
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or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
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<table><tr><td colspan='2'>[[3hg5]] 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=3HG5 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3HG5 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='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ACY:ACETIC+ACID'>ACY</scene>, <scene name='pdbligand=BMA:BETA-D-MANNOSE'>BMA</scene>, <scene name='pdbligand=GAL:BETA-D-GALACTOSE'>GAL</scene>, <scene name='pdbligand=GLA:ALPHA+D-GALACTOSE'>GLA</scene>, <scene name='pdbligand=MAN:ALPHA-D-MANNOSE'>MAN</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></td></tr>
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{{STRUCTURE_3hg5| PDB=3hg5 | SCENE= }}
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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=3hg5 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3hg5 OCA], [https://pdbe.org/3hg5 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3hg5 RCSB], [https://www.ebi.ac.uk/pdbsum/3hg5 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3hg5 ProSAT]</span></td></tr>
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</table>
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== Disease ==
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[https://www.uniprot.org/uniprot/AGAL_HUMAN AGAL_HUMAN] Defects in GLA are the cause of Fabry disease (FD) [MIM:[https://omim.org/entry/301500 301500]. FD is a rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities.<ref>PMID:2152885</ref> <ref>PMID:1846223</ref> <ref>PMID:2171331</ref> <ref>PMID:2539398</ref> <ref>PMID:1315715</ref> <ref>PMID:7504405</ref> <ref>PMID:8395937</ref> <ref>PMID:8069316</ref> <ref>PMID:7531540</ref> <ref>PMID:7575533</ref> <ref>PMID:7759078</ref> <ref>PMID:7599642</ref> <ref>PMID:7596372</ref> <ref>PMID:8738659</ref> <ref>PMID:8875188</ref> <ref>PMID:8834244</ref> <ref>PMID:8931708</ref> <ref>PMID:8807334</ref> <ref>PMID:8863162</ref> <ref>PMID:9105656</ref> <ref>PMID:9100224</ref> <ref>PMID:9554750</ref> <ref>PMID:9452068</ref> <ref>PMID:9452090</ref> <ref>PMID:9452111</ref> <ref>PMID:10208848</ref> <ref>PMID:10090526</ref> <ref>PMID:10838196</ref> <ref>PMID:10666480</ref> <ref>PMID:11076046</ref> <ref>PMID:10916280</ref> <ref>PMID:11295840</ref> <ref>PMID:11668641</ref> <ref>PMID:11889412</ref> <ref>PMID:12694230</ref> <ref>PMID:12786754</ref> <ref>PMID:15162124</ref> <ref>PMID:15712228</ref> <ref>PMID:16533976</ref> <ref>PMID:19621417</ref>
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== Function ==
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[https://www.uniprot.org/uniprot/AGAL_HUMAN AGAL_HUMAN]
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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/hg/3hg5_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=3hg5 ConSurf].
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<div style="clear:both"></div>
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===Human alpha-galactosidase catalytic mechanism 4. Product bound===
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==See Also==
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*[[Galactosidase 3D structures|Galactosidase 3D structures]]
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== References ==
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__TOC__
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(as it appears on PubMed at http://www.pubmed.gov), where 19940122 is the PubMed ID number.
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</StructureSection>
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{{ABSTRACT_PUBMED_19940122}}
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==Disease==
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Known disease associated with this structure: Fabry disease OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644 300644]], Fabry disease, cardiac variant OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300644 300644]]
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==About this Structure==
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3HG5 is a 2 chains structure with sequences 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=3HG5 OCA].
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==Reference==
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<ref group="xtra">PMID:19940122</ref><references group="xtra"/>
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[[Category: Alpha-galactosidase]]
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[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Clark, N E.]]
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[[Category: Large Structures]]
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[[Category: Garman, S C.]]
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[[Category: Clark NE]]
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[[Category: Guce, A I.]]
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[[Category: Garman SC]]
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[[Category: Carbohydrate-binding protein]]
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[[Category: Guce AI]]
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[[Category: Disease mutation]]
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[[Category: Disulfide bond]]
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[[Category: Glycoprotein]]
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[[Category: Glycosidase]]
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[[Category: Hydrolase]]
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[[Category: Lysosomal enzyme]]
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[[Category: Lysosome]]
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[[Category: Pharmaceutical]]
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Thu Feb 25 09:20:01 2010''
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Current revision

Human alpha-galactosidase catalytic mechanism 4. Product bound

PDB ID 3hg5

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