6p7f: Difference between revisions
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==Human ABCC6 NBD2 R1459D mutant in Apo state== | ==Human ABCC6 NBD2 R1459D mutant in Apo state== | ||
<StructureSection load='6p7f' size='340' side='right'caption='[[6p7f]]' scene=''> | <StructureSection load='6p7f' size='340' side='right'caption='[[6p7f]], [[Resolution|resolution]] 2.85Å' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6P7F OCA]. For a <b>guided tour on the structure components</b> use [ | <table><tr><td colspan='2'>[[6p7f]] is a 1 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=6P7F OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6P7F FirstGlance]. <br> | ||
</td></tr><tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[ | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.85004Å</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> | |||
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=6p7f FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6p7f OCA], [https://pdbe.org/6p7f PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6p7f RCSB], [https://www.ebi.ac.uk/pdbsum/6p7f PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6p7f ProSAT]</span></td></tr> | |||
</table> | </table> | ||
== Disease == | |||
[https://www.uniprot.org/uniprot/MRP6_HUMAN MRP6_HUMAN] Generalized arterial calcification of infancy;Pseudoxanthoma elasticum. The disease is caused by mutations affecting the gene represented in this entry. Homozygous or compound heterozygous ABCC6 mutations have been found in the overwhelming majority of cases. Individuals carrying heterozygous mutations express limited manifestations of the pseudoxanthoma elasticum phenotype. The disease is caused by mutations affecting the gene represented in this entry. | |||
== Function == | |||
[https://www.uniprot.org/uniprot/MRP6_HUMAN MRP6_HUMAN] Isoform 1: May participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS).<ref>PMID:11880368</ref> Isoform 2: Inhibits TNF-alpha-mediated apoptosis through blocking one or more caspases.<ref>PMID:23912081</ref> | |||
== References == | |||
<references/> | |||
__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | |||
[[Category: Large Structures]] | [[Category: Large Structures]] | ||
[[Category: Thibodeau PH]] | [[Category: Thibodeau PH]] | ||
[[Category: Zheng A]] | [[Category: Zheng A]] |
Latest revision as of 10:24, 11 October 2023
Human ABCC6 NBD2 R1459D mutant in Apo stateHuman ABCC6 NBD2 R1459D mutant in Apo state
Structural highlights
DiseaseMRP6_HUMAN Generalized arterial calcification of infancy;Pseudoxanthoma elasticum. The disease is caused by mutations affecting the gene represented in this entry. Homozygous or compound heterozygous ABCC6 mutations have been found in the overwhelming majority of cases. Individuals carrying heterozygous mutations express limited manifestations of the pseudoxanthoma elasticum phenotype. The disease is caused by mutations affecting the gene represented in this entry. FunctionMRP6_HUMAN Isoform 1: May participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS).[1] Isoform 2: Inhibits TNF-alpha-mediated apoptosis through blocking one or more caspases.[2] References
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