2r3v: Difference between revisions

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== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[2r3v]] is a 4 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=2R3V OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2R3V FirstGlance]. <br>
<table><tr><td colspan='2'>[[2r3v]] is a 4 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=2R3V OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2R3V FirstGlance]. <br>
</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">MVK ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.5&#8491;</td></tr>
<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[https://en.wikipedia.org/wiki/Mevalonate_kinase Mevalonate kinase], with EC number [https://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.7.1.36 2.7.1.36] </span></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=2r3v FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2r3v OCA], [https://pdbe.org/2r3v PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2r3v RCSB], [https://www.ebi.ac.uk/pdbsum/2r3v PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2r3v ProSAT]</span></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=2r3v FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2r3v OCA], [https://pdbe.org/2r3v PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2r3v RCSB], [https://www.ebi.ac.uk/pdbsum/2r3v PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2r3v ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
[[https://www.uniprot.org/uniprot/KIME_HUMAN KIME_HUMAN]] Defects in MVK are the cause of mevalonic aciduria (MEVA) [MIM:[https://omim.org/entry/610377 610377]]. It is an accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia.<ref>PMID:1377680</ref> <ref>PMID:11313768</ref> <ref>PMID:10417275</ref> <ref>PMID:10401001</ref> <ref>PMID:11313769</ref>  Defects in MVK are the cause of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:[https://omim.org/entry/260920 260920]]. HIDS is an autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), athralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal.<ref>PMID:11313768</ref> <ref>PMID:11313769</ref> <ref>PMID:10369261</ref> <ref>PMID:10369262</ref> <ref>PMID:15536479</ref>
[https://www.uniprot.org/uniprot/KIME_HUMAN KIME_HUMAN] Defects in MVK are the cause of mevalonic aciduria (MEVA) [MIM:[https://omim.org/entry/610377 610377]. It is an accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia.<ref>PMID:1377680</ref> <ref>PMID:11313768</ref> <ref>PMID:10417275</ref> <ref>PMID:10401001</ref> <ref>PMID:11313769</ref>  Defects in MVK are the cause of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:[https://omim.org/entry/260920 260920]. HIDS is an autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), athralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal.<ref>PMID:11313768</ref> <ref>PMID:11313769</ref> <ref>PMID:10369261</ref> <ref>PMID:10369262</ref> <ref>PMID:15536479</ref>  
== Function ==
== Function ==
[[https://www.uniprot.org/uniprot/KIME_HUMAN KIME_HUMAN]] May be a regulatory site in cholesterol biosynthetic pathway.  
[https://www.uniprot.org/uniprot/KIME_HUMAN KIME_HUMAN] May be a regulatory site in cholesterol biosynthetic pathway.
== Evolutionary Conservation ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
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[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
[[Category: Mevalonate kinase]]
[[Category: Fu Z]]
[[Category: Fu, Z]]
[[Category: Kim JP]]
[[Category: Kim, J P]]
[[Category: Miziorko HM]]
[[Category: Miziorko, H M]]
[[Category: Voynova NE]]
[[Category: Voynova, N E]]
[[Category: Atp-binding]]
[[Category: Cataract]]
[[Category: Cholesterol biosynthesis]]
[[Category: Cytoplasm]]
[[Category: Disease mutation]]
[[Category: Farnesyl thiodiphophate]]
[[Category: Lipid synthesis]]
[[Category: Nucleotide-binding]]
[[Category: Peroxisome]]
[[Category: Polymorphism]]
[[Category: Steroid biosynthesis]]
[[Category: Sterol biosynthesis]]
[[Category: Transferase]]
Retrieved from "https://proteopedia.org/2r3v"