2oay
From Proteopedia
(Difference between revisions)
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== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2oay]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2OAY OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2OAY FirstGlance]. <br> | <table><tr><td colspan='2'>[[2oay]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2OAY OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2OAY FirstGlance]. <br> | ||
| - | </td></tr><tr><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene>< | + | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=NAG:N-ACETYL-D-GLUCOSAMINE'>NAG</scene></td></tr> |
| - | <tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">SERPING1, C1IN, C1NH ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> | + | <tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">SERPING1, C1IN, C1NH ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</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=2oay FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2oay OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2oay RCSB], [http://www.ebi.ac.uk/pdbsum/2oay 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=2oay FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2oay OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2oay RCSB], [http://www.ebi.ac.uk/pdbsum/2oay PDBsum]</span></td></tr> |
| - | <table> | + | </table> |
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/IC1_HUMAN IC1_HUMAN]] Defects in SERPING1 are the cause of hereditary angioedema (HAE) [MIM:[http://omim.org/entry/106100 106100]]; also called hereditary angioneurotic edema (HANE). HAE is an autosomal dominant disorder characterized by episodic local subcutaneous edema and submucosal edema involving the upper respiratory and gastrointestinal tracts. HAE due to C1 esterase inhibitor deficiency is comprised of two clinically indistinguishable forms. In HAE type 1, representing 85% of patients, serum levels of C1 esterase inhibitor are less than 35% of normal. In HAE type 2, the levels are normal or elevated, but the protein is non-functional.<ref>PMID:12773530</ref> <ref>PMID:7814636</ref> <ref>PMID:3178731</ref> <ref>PMID:2365061</ref> <ref>PMID:2296585</ref> <ref>PMID:2118657</ref> [:]<ref>PMID:1451784</ref> <ref>PMID:1363816</ref> <ref>PMID:8172583</ref> <ref>PMID:7883978</ref> <ref>PMID:8529136</ref> <ref>PMID:8755917</ref> <ref>PMID:14635117</ref> <ref>PMID:16409206</ref> <ref>PMID:22994404</ref> | [[http://www.uniprot.org/uniprot/IC1_HUMAN IC1_HUMAN]] Defects in SERPING1 are the cause of hereditary angioedema (HAE) [MIM:[http://omim.org/entry/106100 106100]]; also called hereditary angioneurotic edema (HANE). HAE is an autosomal dominant disorder characterized by episodic local subcutaneous edema and submucosal edema involving the upper respiratory and gastrointestinal tracts. HAE due to C1 esterase inhibitor deficiency is comprised of two clinically indistinguishable forms. In HAE type 1, representing 85% of patients, serum levels of C1 esterase inhibitor are less than 35% of normal. In HAE type 2, the levels are normal or elevated, but the protein is non-functional.<ref>PMID:12773530</ref> <ref>PMID:7814636</ref> <ref>PMID:3178731</ref> <ref>PMID:2365061</ref> <ref>PMID:2296585</ref> <ref>PMID:2118657</ref> [:]<ref>PMID:1451784</ref> <ref>PMID:1363816</ref> <ref>PMID:8172583</ref> <ref>PMID:7883978</ref> <ref>PMID:8529136</ref> <ref>PMID:8755917</ref> <ref>PMID:14635117</ref> <ref>PMID:16409206</ref> <ref>PMID:22994404</ref> | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
| - | [[Category: Beinrohr, L | + | [[Category: Beinrohr, L]] |
| - | [[Category: Dobo, J | + | [[Category: Dobo, J]] |
| - | [[Category: Gal, P | + | [[Category: Gal, P]] |
| - | [[Category: Harmat, V | + | [[Category: Harmat, V]] |
[[Category: Hydrolase inhibitor]] | [[Category: Hydrolase inhibitor]] | ||
[[Category: Immune system]] | [[Category: Immune system]] | ||
[[Category: Latent serpin]] | [[Category: Latent serpin]] | ||
[[Category: Rcl insertion]] | [[Category: Rcl insertion]] | ||
Revision as of 13:35, 19 January 2015
Crystal structure of latent human C1-inhibitor
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