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==Crystal Structure of the Human Argininosuccinate Lyase Q286R Mutant==
==Crystal Structure of the Human Argininosuccinate Lyase Q286R Mutant==
<StructureSection load='1k62' size='340' side='right' caption='[[1k62]], [[Resolution|resolution]] 2.65&Aring;' scene=''>
<StructureSection load='1k62' size='340' side='right'caption='[[1k62]], [[Resolution|resolution]] 2.65&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[1k62]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1K62 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1K62 FirstGlance]. <br>
<table><tr><td colspan='2'>[[1k62]] is a 2 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=1K62 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1K62 FirstGlance]. <br>
</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[1aos|1aos]], [[1hy1|1hy1]], [[1hy0|1hy0]], [[1auw|1auw]], [[1dcn|1dcn]], [[1i0a|1i0a]]</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]] 2.65&#8491;</td></tr>
<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Argininosuccinate_lyase Argininosuccinate lyase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=4.3.2.1 4.3.2.1] </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=1k62 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1k62 OCA], [https://pdbe.org/1k62 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1k62 RCSB], [https://www.ebi.ac.uk/pdbsum/1k62 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1k62 ProSAT]</span></td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1k62 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1k62 OCA], [http://pdbe.org/1k62 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1k62 RCSB], [http://www.ebi.ac.uk/pdbsum/1k62 PDBsum]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
[[http://www.uniprot.org/uniprot/ARLY_HUMAN ARLY_HUMAN]] Defects in ASL are the cause of arginosuccinic aciduria (ARGINSA) [MIM:[http://omim.org/entry/207900 207900]]. An autosomal recessive disorder of the urea cycle. The disease is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness.<ref>PMID:1705937</ref> <ref>PMID:2263616</ref> <ref>PMID:12408190</ref> <ref>PMID:17326097</ref>
[https://www.uniprot.org/uniprot/ARLY_HUMAN ARLY_HUMAN] Defects in ASL are the cause of arginosuccinic aciduria (ARGINSA) [MIM:[https://omim.org/entry/207900 207900]. An autosomal recessive disorder of the urea cycle. The disease is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness.<ref>PMID:1705937</ref> <ref>PMID:2263616</ref> <ref>PMID:12408190</ref> <ref>PMID:17326097</ref>  
== Function ==
[https://www.uniprot.org/uniprot/ARLY_HUMAN ARLY_HUMAN]
== Evolutionary Conservation ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
Check<jmol>
Check<jmol>
   <jmolCheckbox>
   <jmolCheckbox>
     <scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/k6/1k62_consurf.spt"</scriptWhenChecked>
     <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/k6/1k62_consurf.spt"</scriptWhenChecked>
     <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
     <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
     <text>to colour the structure by Evolutionary Conservation</text>
     <text>to colour the structure by Evolutionary Conservation</text>
   </jmolCheckbox>
   </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/chain_selection.php?pdb_ID=2ata 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=1k62 ConSurf].
<div style="clear:both"></div>
<div style="clear:both"></div>
<div style="background-color:#fffaf0;">
<div style="background-color:#fffaf0;">
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__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Argininosuccinate lyase]]
[[Category: Homo sapiens]]
[[Category: Human]]
[[Category: Large Structures]]
[[Category: Howell, P L]]
[[Category: Howell PL]]
[[Category: Sampaleanu, L M]]
[[Category: Sampaleanu LM]]
[[Category: Thompson, G D]]
[[Category: Thompson GD]]
[[Category: Vallee, F]]
[[Category: Vallee F]]
[[Category: Arginiosuccinate lyase]]
[[Category: Delta crystallin]]
[[Category: Enzyme mechanism]]
[[Category: Intragenic complementation]]
[[Category: Lyase]]
Retrieved from "https://proteopedia.org/1k62"