1cee: Difference between revisions
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== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[1cee]] is a 2 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=1CEE OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1CEE FirstGlance]. <br> | <table><tr><td colspan='2'>[[1cee]] is a 2 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=1CEE OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1CEE FirstGlance]. <br> | ||
</td></tr><tr><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=GCP:PHOSPHOMETHYLPHOSPHONIC+ACID+GUANYLATE+ESTER'>GCP</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene>< | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=GCP:PHOSPHOMETHYLPHOSPHONIC+ACID+GUANYLATE+ESTER'>GCP</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene></td></tr> | ||
<tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1cee FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1cee OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1cee RCSB], [http://www.ebi.ac.uk/pdbsum/1cee PDBsum]</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=1cee FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1cee OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1cee RCSB], [http://www.ebi.ac.uk/pdbsum/1cee PDBsum]</span></td></tr> | ||
<table> | </table> | ||
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/WASP_HUMAN WASP_HUMAN]] Defects in WAS are the cause of Wiskott-Aldrich syndrome (WAS) [MIM:[http://omim.org/entry/301000 301000]]; also known as eczema-thrombocytopenia-immunodeficiency syndrome. WAS is an X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10.<ref>PMID:7753869</ref> <ref>PMID:8528198</ref> <ref>PMID:8528199</ref> <ref>PMID:8682510</ref> <ref>PMID:9126958</ref> <ref>PMID:9098856</ref> <ref>PMID:9683546</ref> <ref>PMID:9713366</ref> <ref>PMID:9445409</ref> <ref>PMID:10447259</ref> <ref>PMID:11793485</ref> Defects in WAS are the cause of thrombocytopenia type 1 (THC1) [MIM:[http://omim.org/entry/313900 313900]]. Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting.<ref>PMID:8528199</ref> <ref>PMID:10447259</ref> <ref>PMID:7795648</ref> <ref>PMID:11167787</ref> <ref>PMID:11877312</ref> Defects in WAS are a cause of neutropenia severe congenital X-linked (XLN) [MIM:[http://omim.org/entry/300299 300299]]. XLN is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia.<ref>PMID:11242115</ref> | [[http://www.uniprot.org/uniprot/WASP_HUMAN WASP_HUMAN]] Defects in WAS are the cause of Wiskott-Aldrich syndrome (WAS) [MIM:[http://omim.org/entry/301000 301000]]; also known as eczema-thrombocytopenia-immunodeficiency syndrome. WAS is an X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10.<ref>PMID:7753869</ref> <ref>PMID:8528198</ref> <ref>PMID:8528199</ref> <ref>PMID:8682510</ref> <ref>PMID:9126958</ref> <ref>PMID:9098856</ref> <ref>PMID:9683546</ref> <ref>PMID:9713366</ref> <ref>PMID:9445409</ref> <ref>PMID:10447259</ref> <ref>PMID:11793485</ref> Defects in WAS are the cause of thrombocytopenia type 1 (THC1) [MIM:[http://omim.org/entry/313900 313900]]. Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting.<ref>PMID:8528199</ref> <ref>PMID:10447259</ref> <ref>PMID:7795648</ref> <ref>PMID:11167787</ref> <ref>PMID:11877312</ref> Defects in WAS are a cause of neutropenia severe congenital X-linked (XLN) [MIM:[http://omim.org/entry/300299 300299]]. XLN is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia.<ref>PMID:11242115</ref> | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Abdul-Manan, N | [[Category: Abdul-Manan, N]] | ||
[[Category: Aghazadeh, B | [[Category: Aghazadeh, B]] | ||
[[Category: Liu, G A | [[Category: Liu, G A]] | ||
[[Category: Majumdar, A | [[Category: Majumdar, A]] | ||
[[Category: Ouerfelli, O | [[Category: Ouerfelli, O]] | ||
[[Category: Rosen, M K | [[Category: Rosen, M K]] | ||
[[Category: Cdc42 actin regulator gtpase and the gtpase binding domain of its effector wasp]] | [[Category: Cdc42 actin regulator gtpase and the gtpase binding domain of its effector wasp]] | ||
[[Category: Structural protein regulation]] | [[Category: Structural protein regulation]] | ||