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2v4m

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[[Image:2v4m.png|left|200px]]
 
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{{STRUCTURE_2v4m| PDB=2v4m | SCENE= }}
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==The isomerase domain of human glutamine-fructose-6-phosphate transaminase 1 (GFPT1) in complex with fructose 6-phosphate==
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<StructureSection load='2v4m' size='340' side='right'caption='[[2v4m]], [[Resolution|resolution]] 2.29&Aring;' scene=''>
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===THE ISOMERASE DOMAIN OF HUMAN GLUTAMINE-FRUCTOSE-6-PHOSPHATE TRANSAMINASE 1 (GFPT1) IN COMPLEX WITH FRUCTOSE 6-PHOSPHATE===
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== Structural highlights ==
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<table><tr><td colspan='2'>[[2v4m]] is a 4 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=2V4M OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2V4M 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]] 2.29&#8491;</td></tr>
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==About this Structure==
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<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CL:CHLORIDE+ION'>CL</scene>, <scene name='pdbligand=F6R:FRUCTOSE+-6-PHOSPHATE'>F6R</scene></td></tr>
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[[2v4m]] is a 4 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=2V4M OCA].
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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=2v4m FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2v4m OCA], [https://pdbe.org/2v4m PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2v4m RCSB], [https://www.ebi.ac.uk/pdbsum/2v4m PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2v4m 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/v4/2v4m_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=2v4m ConSurf].
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<div style="clear:both"></div>
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== References ==
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<references/>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Andersson, J.]]
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[[Category: Large Structures]]
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[[Category: Arrowsmith, C H.]]
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[[Category: Andersson J]]
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[[Category: Berg, S Van Den.]]
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[[Category: Arrowsmith CH]]
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[[Category: Berglund, H.]]
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[[Category: Berglund H]]
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[[Category: Collins, R.]]
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[[Category: Collins R]]
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[[Category: Dahlgren, L G.]]
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[[Category: Dahlgren LG]]
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[[Category: Edwards, A M.]]
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[[Category: Edwards AM]]
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[[Category: Flodin, S.]]
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[[Category: Flodin S]]
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[[Category: Flores, A.]]
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[[Category: Flores A]]
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[[Category: Graslund, S.]]
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[[Category: Graslund S]]
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[[Category: Hammarstrom, M.]]
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[[Category: Hammarstrom M]]
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[[Category: Johansson, A.]]
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[[Category: Johansson A]]
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[[Category: Johansson, I.]]
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[[Category: Johansson I]]
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[[Category: Karlberg, T.]]
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[[Category: Karlberg T]]
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[[Category: Kotenyova, T.]]
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[[Category: Kotenyova T]]
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[[Category: Lehtio, L.]]
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[[Category: Lehtio L]]
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[[Category: Moche, M.]]
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[[Category: Moche M]]
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[[Category: Nilsson, M E.]]
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[[Category: Nilsson ME]]
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[[Category: Nordlund, P.]]
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[[Category: Nordlund P]]
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[[Category: Nyman, T.]]
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[[Category: Nyman T]]
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[[Category: Persson, C.]]
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[[Category: Persson C]]
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[[Category: Sagemark, J.]]
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[[Category: Sagemark J]]
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[[Category: Schueler, H.]]
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[[Category: Schueler H]]
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[[Category: Svensson, S.]]
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[[Category: Svensson S]]
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[[Category: Thorsell, A G.]]
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[[Category: Thorsell AG]]
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[[Category: Tresaugues, L.]]
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[[Category: Tresaugues L]]
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[[Category: Uppenberg, J.]]
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[[Category: Uppenberg J]]
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[[Category: Weigelt, J.]]
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[[Category: Van Den Berg S]]
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[[Category: Welin, M.]]
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[[Category: Weigelt J]]
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[[Category: Wikstrom, M.]]
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[[Category: Welin M]]
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[[Category: Wisniewska, M.]]
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[[Category: Wikstrom M]]
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[[Category: Aminotransferase]]
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[[Category: Wisniewska M]]
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[[Category: Dimer]]
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[[Category: Fructose 6-phosphate]]
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[[Category: Glutamine amidotransferase]]
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[[Category: Isomerase]]
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[[Category: Phosphoprotein]]
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[[Category: Sis domain]]
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[[Category: Transferase]]
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Current revision

The isomerase domain of human glutamine-fructose-6-phosphate transaminase 1 (GFPT1) in complex with fructose 6-phosphate

PDB ID 2v4m

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