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2h5g

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{{STRUCTURE_2h5g| PDB=2h5g | SCENE= }}
 
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===Crystal structure of human pyrroline-5-carboxylate synthetase===
 
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==Disease==
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==Crystal structure of human pyrroline-5-carboxylate synthetase==
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[[http://www.uniprot.org/uniprot/P5CS_HUMAN P5CS_HUMAN]] Defects in ALDH18A1 are the cause of cutis laxa, autosomal recessive, type 3A (ARCL3A) [MIM:[http://omim.org/entry/219150 219150]]. A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities.<ref>PMID:11092761</ref><ref>PMID:18478038</ref>
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<StructureSection load='2h5g' size='340' side='right'caption='[[2h5g]], [[Resolution|resolution]] 2.25&Aring;' scene=''>
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== Structural highlights ==
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==Function==
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<table><tr><td colspan='2'>[[2h5g]] is a 2 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=2H5G OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2H5G FirstGlance]. <br>
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[[http://www.uniprot.org/uniprot/P5CS_HUMAN P5CS_HUMAN]] Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine.<ref>PMID:10037775</ref><ref>PMID:11092761</ref>
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</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></td></tr>
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<tr id='NonStdRes'><td class="sblockLbl"><b>[[Non-Standard_Residue|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=MSE:SELENOMETHIONINE'>MSE</scene></td></tr>
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==About this Structure==
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<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">ALDH18A1 ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
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[[2h5g]] is a 2 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=2H5G OCA].
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<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[https://en.wikipedia.org/wiki/Glutamate-5-semialdehyde_dehydrogenase Glutamate-5-semialdehyde dehydrogenase], with EC number [https://www.brenda-enzymes.info/php/result_flat.php4?ecno=1.2.1.41 1.2.1.41] </span></td></tr>
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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=2h5g FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2h5g OCA], [https://pdbe.org/2h5g PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2h5g RCSB], [https://www.ebi.ac.uk/pdbsum/2h5g PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2h5g ProSAT]</span></td></tr>
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==Reference==
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</table>
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<references group="xtra"/><references/>
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== Disease ==
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[[https://www.uniprot.org/uniprot/P5CS_HUMAN P5CS_HUMAN]] Defects in ALDH18A1 are the cause of cutis laxa, autosomal recessive, type 3A (ARCL3A) [MIM:[https://omim.org/entry/219150 219150]]. A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities.<ref>PMID:11092761</ref> <ref>PMID:18478038</ref>
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== Function ==
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[[https://www.uniprot.org/uniprot/P5CS_HUMAN P5CS_HUMAN]] Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine.<ref>PMID:10037775</ref> <ref>PMID:11092761</ref>
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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/h5/2h5g_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=2h5g 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: Glutamate-5-semialdehyde dehydrogenase]]
[[Category: Glutamate-5-semialdehyde dehydrogenase]]
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[[Category: Homo sapiens]]
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[[Category: Human]]
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[[Category: Arrowsmith, C.]]
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[[Category: Large Structures]]
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[[Category: Berridge, G.]]
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[[Category: Arrowsmith, C]]
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[[Category: Bray, J.]]
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[[Category: Berridge, G]]
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[[Category: Edwards, A.]]
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[[Category: Bray, J]]
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[[Category: Gileadi, O.]]
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[[Category: Edwards, A]]
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[[Category: Gorrec, F.]]
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[[Category: Gileadi, O]]
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[[Category: Hozjan, V.]]
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[[Category: Gorrec, F]]
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[[Category: Kavanagh, K.]]
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[[Category: Hozjan, V]]
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[[Category: Oppermann, U.]]
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[[Category: Kavanagh, K]]
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[[Category: Papagrigoriou, E.]]
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[[Category: Oppermann, U]]
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[[Category: SGC, Structural Genomics Consortium.]]
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[[Category: Papagrigoriou, E]]
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[[Category: Shafqat, N.]]
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[[Category: Structural genomic]]
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[[Category: Smee, C.]]
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[[Category: Shafqat, N]]
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[[Category: Sundstrom, M.]]
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[[Category: Smee, C]]
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[[Category: Turnbull, A P.]]
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[[Category: Sundstrom, M]]
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[[Category: Weigelt, J.]]
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[[Category: Turnbull, A P]]
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[[Category: Weigelt, J]]
[[Category: Dehydrogenase]]
[[Category: Dehydrogenase]]
[[Category: Oxidoreductase]]
[[Category: Oxidoreductase]]
[[Category: Sgc]]
[[Category: Sgc]]
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[[Category: Structural genomic]]
 
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[[Category: Structural genomics consortium]]
 

Current revision

Crystal structure of human pyrroline-5-carboxylate synthetase

PDB ID 2h5g

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