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==Structure of the E1064A mutant of the N-domain of Wilson Disease Associated Protein== | |||
<StructureSection load='2koy' size='340' side='right' caption='[[2koy]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[2koy]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KOY OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2KOY FirstGlance]. <br> | |||
==Disease== | </td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[2arf|2arf]]</td></tr> | ||
[[http://www.uniprot.org/uniprot/ATP7B_HUMAN ATP7B_HUMAN]] Defects in ATP7B are the cause of Wilson disease (WD) [MIM:[http://omim.org/entry/277900 277900]]. WD is an autosomal recessive disorder of copper metabolism in which copper cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Copper accumulates in the liver and subsequently in the brain and kidney. The disease is characterized by neurologic manifestations and signs of cirrhosis.<ref>PMID:8298641</ref><ref>PMID:7626145</ref><ref>PMID:8533760</ref><ref>PMID:8938442</ref><ref>PMID:8931691</ref><ref>PMID:8782057</ref><ref>PMID:9311736</ref><ref>PMID:9772425</ref><ref>PMID:9222767</ref><ref>PMID:8980283</ref><ref>PMID:9887381</ref><ref>PMID:9482578</ref><ref>PMID:9554743</ref><ref>PMID:9452121</ref><ref>PMID:9671269</ref><ref>PMID:9829905</ref><ref>PMID:10194254</ref><ref>PMID:10447265</ref><ref>PMID:10502776</ref><ref>PMID:10502777</ref><ref>PMID:10051024</ref><ref>PMID:10544227</ref><ref>PMID:10453196</ref><ref>PMID:11216666</ref><ref>PMID:11093740</ref><ref>PMID:10790207</ref><ref>PMID:10721669</ref><ref>PMID:11043508</ref><ref>PMID:11180609</ref><ref>PMID:11690702</ref><ref>PMID:11243728</ref><ref>PMID:11954751</ref><ref>PMID:12544487</ref><ref>PMID:12325021</ref><ref>PMID:12376745</ref><ref>PMID:14986826</ref><ref>PMID:14639035</ref><ref>PMID:15024742</ref><ref>PMID:15557537</ref><ref>PMID:14966923</ref><ref>PMID:15845031</ref><ref>PMID:15811015</ref><ref>PMID:15952988</ref><ref>PMID:16207219</ref><ref>PMID:16283883</ref><ref>PMID:16088907</ref><ref>PMID:15967699</ref><ref>PMID:17718866</ref><ref>PMID:18373411</ref><ref>PMID:18203200</ref><ref>PMID:21682854</ref> | <tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">ATP7B, PWD, WC1, WND ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> | ||
<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Copper-exporting_ATPase Copper-exporting ATPase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=3.6.3.4 3.6.3.4] </span></td></tr> | |||
==Function== | <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=2koy FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2koy OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2koy RCSB], [http://www.ebi.ac.uk/pdbsum/2koy PDBsum]</span></td></tr> | ||
</table> | |||
== Disease == | |||
[[http://www.uniprot.org/uniprot/ATP7B_HUMAN ATP7B_HUMAN]] Defects in ATP7B are the cause of Wilson disease (WD) [MIM:[http://omim.org/entry/277900 277900]]. WD is an autosomal recessive disorder of copper metabolism in which copper cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Copper accumulates in the liver and subsequently in the brain and kidney. The disease is characterized by neurologic manifestations and signs of cirrhosis.<ref>PMID:8298641</ref> <ref>PMID:7626145</ref> <ref>PMID:8533760</ref> <ref>PMID:8938442</ref> <ref>PMID:8931691</ref> <ref>PMID:8782057</ref> <ref>PMID:9311736</ref> <ref>PMID:9772425</ref> <ref>PMID:9222767</ref> <ref>PMID:8980283</ref> <ref>PMID:9887381</ref> <ref>PMID:9482578</ref> <ref>PMID:9554743</ref> <ref>PMID:9452121</ref> <ref>PMID:9671269</ref> <ref>PMID:9829905</ref> <ref>PMID:10194254</ref> <ref>PMID:10447265</ref> <ref>PMID:10502776</ref> <ref>PMID:10502777</ref> <ref>PMID:10051024</ref> <ref>PMID:10544227</ref> <ref>PMID:10453196</ref> <ref>PMID:11216666</ref> <ref>PMID:11093740</ref> <ref>PMID:10790207</ref> <ref>PMID:10721669</ref> <ref>PMID:11043508</ref> <ref>PMID:11180609</ref> <ref>PMID:11690702</ref> <ref>PMID:11243728</ref> <ref>PMID:11954751</ref> <ref>PMID:12544487</ref> <ref>PMID:12325021</ref> <ref>PMID:12376745</ref> <ref>PMID:14986826</ref> <ref>PMID:14639035</ref> <ref>PMID:15024742</ref> <ref>PMID:15557537</ref> <ref>PMID:14966923</ref> <ref>PMID:15845031</ref> <ref>PMID:15811015</ref> <ref>PMID:15952988</ref> <ref>PMID:16207219</ref> <ref>PMID:16283883</ref> <ref>PMID:16088907</ref> <ref>PMID:15967699</ref> <ref>PMID:17718866</ref> <ref>PMID:18373411</ref> <ref>PMID:18203200</ref> <ref>PMID:21682854</ref> | |||
== Function == | |||
[[http://www.uniprot.org/uniprot/ATP7B_HUMAN ATP7B_HUMAN]] Involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile. | [[http://www.uniprot.org/uniprot/ATP7B_HUMAN ATP7B_HUMAN]] Involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile. | ||
== References == | |||
== | <references/> | ||
__TOC__ | |||
</StructureSection> | |||
<references | |||
[[Category: Copper-exporting ATPase]] | [[Category: Copper-exporting ATPase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Dmitriev, O Y | [[Category: Dmitriev, O Y]] | ||
[[Category: Atp binding]] | [[Category: Atp binding]] | ||
[[Category: Atp-binding]] | [[Category: Atp-binding]] | ||