5fs6: Difference between revisions

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-'''Unreleased structure'''
-The entry 5fs6 is ON HOLD  until Paper Publication
+==Crystal structure of the V243L mutant of human apoptosis inducing factor==
+<StructureSection load='5fs6' size='340' side='right' caption='[[5fs6]], [[Resolution|resolution]] 1.90&Aring;' scene=''>
-Authors: Sevrioukova, I.
+== Structural highlights ==
+<table><tr><td colspan='2'>[[5fs6]] is a 2 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5FS6 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5FS6 FirstGlance]. <br>
-Description: Crystal structure of the V243L mutant of human apoptosis inducing factor
+</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=FAD:FLAVIN-ADENINE+DINUCLEOTIDE'>FAD</scene>, <scene name='pdbligand=TRS:2-AMINO-2-HYDROXYMETHYL-PROPANE-1,3-DIOL'>TRS</scene></td></tr>
-[[Category: Unreleased Structures]]
+<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[5fs7|5fs7]], [[5fs8|5fs8]], [[5fs9|5fs9]]</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=5fs6 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5fs6 OCA], [http://pdbe.org/5fs6 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=5fs6 RCSB], [http://www.ebi.ac.uk/pdbsum/5fs6 PDBsum]</span></td></tr>
+</table>
+== Disease ==
+[[http://www.uniprot.org/uniprot/AIFM1_HUMAN AIFM1_HUMAN]] Defects in AIFM1 are the cause of combined oxidative phosphorylation deficiency type 6 (COXPD6) [MIM:[http://omim.org/entry/300816 300816]]. It is a mitochondrial disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting.<ref>PMID:20362274</ref> <ref>PMID:22019070</ref>
+== Function ==
+[[http://www.uniprot.org/uniprot/AIFM1_HUMAN AIFM1_HUMAN]] Probable oxidoreductase that has a dual role in controlling cellular life and death; during apoptosis, it is translocated from the mitochondria to the nucleus to function as a proapoptotic factor in a caspase-independent pathway, while in normal mitochondria, it functions as an antiapoptotic factor via its oxidoreductase activity. The soluble form (AIFsol) found in the nucleus induces 'parthanatos' i.e. caspase-independent fragmentation of chromosomal DNA. Interacts with EIF3G,and thereby inhibits the EIF3 machinery and protein synthesis, and activates casapse-7 to amplify apoptosis. Plays a critical role in caspase-independent, pyknotic cell death in hydrogen peroxide-exposed cells. Binds to DNA in a sequence-independent manner.<ref>PMID:17094969</ref> <ref>PMID:19418225</ref> <ref>PMID:20362274</ref>
+== References ==
+<references/>
+__TOC__
+</StructureSection>
 [[Category: Sevrioukova, I]]
+[[Category: Flavoprotein]]
+[[Category: Mitochondria]]
+[[Category: Oxidoreductase]]