2rqb: Difference between revisions
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== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2rqb]] 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=2RQB OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2RQB FirstGlance]. <br> | <table><tr><td colspan='2'>[[2rqb]] 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=2RQB OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2RQB FirstGlance]. <br> | ||
</td></tr><tr><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=ZN:ZINC+ION'>ZN</scene>< | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=ZN:ZINC+ION'>ZN</scene></td></tr> | ||
<tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">IFIH1, MDA5, RH116 ([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">IFIH1, MDA5, RH116 ([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=2rqb FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2rqb OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2rqb RCSB], [http://www.ebi.ac.uk/pdbsum/2rqb 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=2rqb FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2rqb OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2rqb RCSB], [http://www.ebi.ac.uk/pdbsum/2rqb PDBsum]</span></td></tr> | ||
<table> | </table> | ||
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/IFIH1_HUMAN IFIH1_HUMAN]] Genetic variation in IFIH1 is associated with diabetes mellitus insulin-dependent type 19 (IDDM19) [MIM:[http://omim.org/entry/610155 610155]]. A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical fetaures are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.<ref>PMID:16699517</ref> Note=IFIH1 is the CADM-140 autoantigen, involved in clinically amyopathic dermatomyositis (CADM). This is a chronic inflammatory disorder that shows typical skin manifestations of dermatomyositis but has no or little evidence of clinical myositis. Anti-CADM-140 antibodies appear to be specific to dermatomyositis, especially CADM. Patients with anti-CADM-140 antibodies frequently develop life-threatening acute progressive interstitial lung disease (ILD).<ref>PMID:19565506</ref> <ref>PMID:20015976</ref> | [[http://www.uniprot.org/uniprot/IFIH1_HUMAN IFIH1_HUMAN]] Genetic variation in IFIH1 is associated with diabetes mellitus insulin-dependent type 19 (IDDM19) [MIM:[http://omim.org/entry/610155 610155]]. A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical fetaures are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.<ref>PMID:16699517</ref> Note=IFIH1 is the CADM-140 autoantigen, involved in clinically amyopathic dermatomyositis (CADM). This is a chronic inflammatory disorder that shows typical skin manifestations of dermatomyositis but has no or little evidence of clinical myositis. Anti-CADM-140 antibodies appear to be specific to dermatomyositis, especially CADM. Patients with anti-CADM-140 antibodies frequently develop life-threatening acute progressive interstitial lung disease (ILD).<ref>PMID:19565506</ref> <ref>PMID:20015976</ref> | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Fujita, T | [[Category: Fujita, T]] | ||
[[Category: Fuyuhiko, I | [[Category: Fuyuhiko, I]] | ||
[[Category: Hirai, R | [[Category: Hirai, R]] | ||
[[Category: Horiuchi, M | [[Category: Horiuchi, M]] | ||
[[Category: Kumeta, H | [[Category: Kumeta, H]] | ||
[[Category: Narita, R | [[Category: Narita, R]] | ||
[[Category: Ogura, K | [[Category: Ogura, K]] | ||
[[Category: Shigemoto, T | [[Category: Shigemoto, T]] | ||
[[Category: Takahasi, K | [[Category: Takahasi, K]] | ||
[[Category: Tsuduki, N | [[Category: Tsuduki, N]] | ||
[[Category: Yoneyama, M | [[Category: Yoneyama, M]] | ||
[[Category: Antiviral defense]] | [[Category: Antiviral defense]] | ||
[[Category: Atp-binding]] | [[Category: Atp-binding]] | ||
