2zj4

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{{Seed}}
 
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[[Image:2zj4.jpg|left|200px]]
 
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==Isomerase domain of human glucose:fructose-6-phosphate amidotransferase==
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The line below this paragraph, containing "STRUCTURE_2zj4", creates the "Structure Box" on the page.
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<StructureSection load='2zj4' size='340' side='right'caption='[[2zj4]], [[Resolution|resolution]] 2.20&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'>[[2zj4]] 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=2ZJ4 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2ZJ4 FirstGlance]. <br>
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or leave the SCENE parameter empty for the default display.
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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]] 2.2&#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=AGP:2-DEOXY-2-AMINO+GLUCITOL-6-PHOSPHATE'>AGP</scene></td></tr>
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{{STRUCTURE_2zj4| PDB=2zj4 | 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=2zj4 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2zj4 OCA], [https://pdbe.org/2zj4 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2zj4 RCSB], [https://www.ebi.ac.uk/pdbsum/2zj4 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2zj4 ProSAT]</span></td></tr>
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</table>
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== Disease ==
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[https://www.uniprot.org/uniprot/GFPT1_HUMAN GFPT1_HUMAN] Defects in GFPT1 are the cause of myasthenia, congenital, with tubular aggregates, type 1 (CMSTA1) [MIM:[https://omim.org/entry/610542 610542]. A congenital myasthenic syndrome characterized by onset of proximal muscle weakness in the first decade. Individuals with this condition have a recognizable pattern of weakness of shoulder and pelvic girdle muscles, and sparing of ocular or facial muscles. EMG classically shows a decremental response to repeated nerve stimulation, a sign of neuromuscular junction dysfunction. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors.<ref>PMID:21310273</ref>
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== Function ==
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[https://www.uniprot.org/uniprot/GFPT1_HUMAN GFPT1_HUMAN] Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins.
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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/zj/2zj4_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=2zj4 ConSurf].
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<div style="clear:both"></div>
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<div style="background-color:#fffaf0;">
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== Publication Abstract from PubMed ==
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Glutamine:fructose-6-phosphate amidotransferase (GFAT) is a rate-limiting enzyme in the hexoamine biosynthetic pathway and plays an important role in type 2 diabetes. We now report the first structures of the isomerase domain of the human GFAT in the presence of cyclic glucose-6-phosphate and linear glucosamine-6-phosphate. The C-terminal tail including the active site displays a rigid conformation, similar to the corresponding Escherichia coli enzyme. The diversity of the CF helix near the active site suggests the helix is a major target for drug design. Our study provides insights into the development of therapeutic drugs for type 2 diabetes.
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===Isomerase domain of human glucose:fructose-6-phosphate amidotransferase===
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Structural analysis of human glutamine:fructose-6-phosphate amidotransferase, a key regulator in type 2 diabetes.,Nakaishi Y, Bando M, Shimizu H, Watanabe K, Goto F, Tsuge H, Kondo K, Komatsu M FEBS Lett. 2009 Jan 5;583(1):163-7. Epub 2008 Dec 6. PMID:19059404<ref>PMID:19059404</ref>
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From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>
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</div>
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The line below this paragraph, {{ABSTRACT_PUBMED_19059404}}, adds the Publication Abstract to the page
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<div class="pdbe-citations 2zj4" style="background-color:#fffaf0;"></div>
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(as it appears on PubMed at http://www.pubmed.gov), where 19059404 is the PubMed ID number.
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== References ==
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<references/>
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{{ABSTRACT_PUBMED_19059404}}
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__TOC__
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</StructureSection>
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==About this Structure==
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2ZJ4 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=2ZJ4 OCA].
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==Reference==
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Structural analysis of human glutamine:fructose-6-phosphate amidotransferase, a key regulator in type 2 diabetes., Nakaishi Y, Bando M, Shimizu H, Watanabe K, Goto F, Tsuge H, Kondo K, Komatsu M, FEBS Lett. 2009 Jan 5;583(1):163-7. Epub 2008 Dec 6. PMID:[http://www.ncbi.nlm.nih.gov/pubmed/19059404 19059404]
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[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Bando, M.]]
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[[Category: Large Structures]]
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[[Category: Kondo, K.]]
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[[Category: Bando M]]
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[[Category: Nakaishi, Y.]]
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[[Category: Kondo K]]
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[[Category: Tsuge, H.]]
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[[Category: Nakaishi Y]]
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[[Category: Aldose/ketose isomerase]]
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[[Category: Tsuge H]]
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[[Category: Alternative splicing]]
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[[Category: Aminotransferase]]
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[[Category: Crystal structure]]
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[[Category: Glucosamine-6-phosphate synthase]]
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[[Category: Glutamine amidotransferase]]
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[[Category: Phosphoprotein]]
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[[Category: Rossmann-like fold]]
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[[Category: Transferase]]
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Jan 14 13:10:01 2009''
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Current revision

Isomerase domain of human glucose:fructose-6-phosphate amidotransferase

PDB ID 2zj4

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