2v4m: Difference between revisions

From Proteopedia
Jump to navigation Jump to search
← Older edit
No edit summary
No edit summary
 
Line 3: Line 3:
<StructureSection load='2v4m' size='340' side='right'caption='[[2v4m]], [[Resolution|resolution]] 2.29&Aring;' scene=''>
<StructureSection load='2v4m' size='340' side='right'caption='[[2v4m]], [[Resolution|resolution]] 2.29&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[2v4m]] is a 4 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. 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>
<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='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>
</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>
<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[https://en.wikipedia.org/wiki/Glutamine--fructose-6-phosphate_transaminase_(isomerizing) Glutamine--fructose-6-phosphate transaminase (isomerizing)], with EC number [https://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.6.1.16 2.6.1.16] </span></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>
<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>
</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 ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
Line 18: Line 22:
</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].
</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>
<div style="clear:both"></div>
== References ==
<references/>
__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
[[Category: Andersson, J]]
[[Category: Andersson J]]
[[Category: Arrowsmith, C H]]
[[Category: Arrowsmith CH]]
[[Category: Berg, S Van Den]]
[[Category: Berglund H]]
[[Category: Berglund, H]]
[[Category: Collins R]]
[[Category: Collins, R]]
[[Category: Dahlgren LG]]
[[Category: Dahlgren, L G]]
[[Category: Edwards AM]]
[[Category: Edwards, A M]]
[[Category: Flodin S]]
[[Category: Flodin, S]]
[[Category: Flores A]]
[[Category: Flores, A]]
[[Category: Graslund S]]
[[Category: Graslund, S]]
[[Category: Hammarstrom M]]
[[Category: Hammarstrom, M]]
[[Category: Johansson A]]
[[Category: Johansson, A]]
[[Category: Johansson I]]
[[Category: Johansson, I]]
[[Category: Karlberg T]]
[[Category: Karlberg, T]]
[[Category: Kotenyova T]]
[[Category: Kotenyova, T]]
[[Category: Lehtio L]]
[[Category: Lehtio, L]]
[[Category: Moche M]]
[[Category: Moche, M]]
[[Category: Nilsson ME]]
[[Category: Nilsson, M E]]
[[Category: Nordlund P]]
[[Category: Nordlund, P]]
[[Category: Nyman T]]
[[Category: Nyman, T]]
[[Category: Persson C]]
[[Category: Persson, C]]
[[Category: Sagemark J]]
[[Category: Sagemark, J]]
[[Category: Schueler H]]
[[Category: Schueler, H]]
[[Category: Svensson S]]
[[Category: Svensson, S]]
[[Category: Thorsell AG]]
[[Category: Thorsell, A G]]
[[Category: Tresaugues L]]
[[Category: Tresaugues, L]]
[[Category: Uppenberg J]]
[[Category: Uppenberg, J]]
[[Category: Van Den Berg S]]
[[Category: Weigelt, J]]
[[Category: Weigelt J]]
[[Category: Welin, M]]
[[Category: Welin M]]
[[Category: Wikstrom, M]]
[[Category: Wikstrom M]]
[[Category: Wisniewska, M]]
[[Category: Wisniewska M]]
[[Category: Alternative splicing]]
[[Category: Aminotransferase]]
[[Category: Dimer]]
[[Category: Fructose 6-phosphate]]
[[Category: Glutamine amidotransferase]]
[[Category: Isomerase]]
[[Category: Phosphoprotein]]
[[Category: Sis domain]]
[[Category: Transferase]]

Latest revision as of 18:05, 13 December 2023

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

Structural highlights

2v4m is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Method:X-ray diffraction, Resolution 2.29Å
Ligands:,
Resources:FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

GFPT1_HUMAN Defects in GFPT1 are the cause of myasthenia, congenital, with tubular aggregates, type 1 (CMSTA1) [MIM: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.[1]

Function

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

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

References

  1. ↑ Senderek J, Muller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hubner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmuller H. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet. 2011 Feb 11;88(2):162-72. doi: 10.1016/j.ajhg.2011.01.008. PMID:21310273 doi:10.1016/j.ajhg.2011.01.008

2v4m, resolution 2.29Å

Drag the structure with the mouse to rotate

Proteopedia Page Contributors and Editors (what is this?)Proteopedia Page Contributors and Editors (what is this?)

OCA
Retrieved from "https://proteopedia.openfox.io/wiki/index.php?title=2v4m&oldid=3987218"