2v4m: Difference between revisions
No edit summary |
No edit summary |
||
(9 intermediate revisions by the same user not shown) | |||
Line 1: | Line 1: | ||
==The isomerase domain of human glutamine-fructose-6-phosphate transaminase 1 (GFPT1) in complex with fructose 6-phosphate== | |||
<StructureSection load='2v4m' size='340' side='right'caption='[[2v4m]], [[Resolution|resolution]] 2.29Å' scene=''> | |||
== Structural highlights == | |||
<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> | |||
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.29Å</td></tr> | |||
<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> | |||
<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> | |||
</table> | |||
== Disease == | |||
[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> | |||
== Function == | |||
== | [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. | ||
== Evolutionary Conservation == | |||
[[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/v4/2v4m_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/main_output.php?pdb_ID=2v4m ConSurf]. | |||
<div style="clear:both"></div> | |||
== References == | |||
<references/> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: | [[Category: Large Structures]] | ||
[[Category: | [[Category: Andersson J]] | ||
[[Category: | [[Category: Arrowsmith CH]] | ||
[[Category: Berglund | [[Category: Berglund H]] | ||
[[Category: Collins | [[Category: Collins R]] | ||
[[Category: Dahlgren | [[Category: Dahlgren LG]] | ||
[[Category: Edwards | [[Category: Edwards AM]] | ||
[[Category: Flodin | [[Category: Flodin S]] | ||
[[Category: Flores | [[Category: Flores A]] | ||
[[Category: Graslund | [[Category: Graslund S]] | ||
[[Category: Hammarstrom | [[Category: Hammarstrom M]] | ||
[[Category: Johansson | [[Category: Johansson A]] | ||
[[Category: Johansson | [[Category: Johansson I]] | ||
[[Category: Karlberg | [[Category: Karlberg T]] | ||
[[Category: Kotenyova | [[Category: Kotenyova T]] | ||
[[Category: Lehtio | [[Category: Lehtio L]] | ||
[[Category: Moche | [[Category: Moche M]] | ||
[[Category: Nilsson | [[Category: Nilsson ME]] | ||
[[Category: Nordlund | [[Category: Nordlund P]] | ||
[[Category: Nyman | [[Category: Nyman T]] | ||
[[Category: Persson | [[Category: Persson C]] | ||
[[Category: Sagemark | [[Category: Sagemark J]] | ||
[[Category: Schueler | [[Category: Schueler H]] | ||
[[Category: Svensson | [[Category: Svensson S]] | ||
[[Category: Thorsell | [[Category: Thorsell AG]] | ||
[[Category: Tresaugues | [[Category: Tresaugues L]] | ||
[[Category: Uppenberg | [[Category: Uppenberg J]] | ||
[[Category: | [[Category: Van Den Berg S]] | ||
[[Category: | [[Category: Weigelt J]] | ||
[[Category: | [[Category: Welin M]] | ||
[[Category: | [[Category: Wikstrom M]] | ||
[[Category: | [[Category: Wisniewska M]] | ||