1umk: Difference between revisions
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== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[1umk]] 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=1UMK OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1UMK FirstGlance]. <br> | <table><tr><td colspan='2'>[[1umk]] 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=1UMK OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1UMK FirstGlance]. <br> | ||
</td></tr><tr><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=FAD:FLAVIN-ADENINE+DINUCLEOTIDE'>FAD</scene>< | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=FAD:FLAVIN-ADENINE+DINUCLEOTIDE'>FAD</scene></td></tr> | ||
<tr><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Cytochrome-b5_reductase Cytochrome-b5 reductase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=1.6.2.2 1.6.2.2] </span></td></tr> | <tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Cytochrome-b5_reductase Cytochrome-b5 reductase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=1.6.2.2 1.6.2.2] </span></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=1umk FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1umk OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1umk RCSB], [http://www.ebi.ac.uk/pdbsum/1umk 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=1umk FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1umk OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1umk RCSB], [http://www.ebi.ac.uk/pdbsum/1umk PDBsum]</span></td></tr> | ||
<table> | </table> | ||
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/NCB5R_HUMAN NCB5R_HUMAN]] Defects in CYB5R3 are the cause of methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:[http://omim.org/entry/250800 250800]]. A form of methemoglobinemia, a hematologic disease characterized by the presence of excessive amounts of methemoglobin in blood cells, resulting in decreased oxygen carrying capacity of the blood, cyanosis and hypoxia. There are two types of methemoglobinemia CYB5R3-related. In type 1, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well-tolerated methemoglobinemia. In type 2, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes and all body tissues. Type 2 methemoglobinemia is associated with mental deficiency and other neurologic symptoms.<ref>PMID:1898726</ref> <ref>PMID:1707593</ref> <ref>PMID:1400360</ref> <ref>PMID:8119939</ref> <ref>PMID:7718898</ref> <ref>PMID:9695975</ref> <ref>PMID:9886302</ref> <ref>PMID:10807796</ref> <ref>PMID:15622768</ref> <ref>PMID:12393396</ref> <ref>PMID:15953014</ref> | [[http://www.uniprot.org/uniprot/NCB5R_HUMAN NCB5R_HUMAN]] Defects in CYB5R3 are the cause of methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:[http://omim.org/entry/250800 250800]]. A form of methemoglobinemia, a hematologic disease characterized by the presence of excessive amounts of methemoglobin in blood cells, resulting in decreased oxygen carrying capacity of the blood, cyanosis and hypoxia. There are two types of methemoglobinemia CYB5R3-related. In type 1, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well-tolerated methemoglobinemia. In type 2, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes and all body tissues. Type 2 methemoglobinemia is associated with mental deficiency and other neurologic symptoms.<ref>PMID:1898726</ref> <ref>PMID:1707593</ref> <ref>PMID:1400360</ref> <ref>PMID:8119939</ref> <ref>PMID:7718898</ref> <ref>PMID:9695975</ref> <ref>PMID:9886302</ref> <ref>PMID:10807796</ref> <ref>PMID:15622768</ref> <ref>PMID:12393396</ref> <ref>PMID:15953014</ref> | ||
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[[Category: Cytochrome-b5 reductase]] | [[Category: Cytochrome-b5 reductase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Bando, S | [[Category: Bando, S]] | ||
[[Category: Horii, C | [[Category: Horii, C]] | ||
[[Category: Nakagawa, A | [[Category: Nakagawa, A]] | ||
[[Category: Shirabe, K | [[Category: Shirabe, K]] | ||
[[Category: Takano, T | [[Category: Takano, T]] | ||
[[Category: Takeshita, M | [[Category: Takeshita, M]] | ||
[[Category: Yubisui, T | [[Category: Yubisui, T]] | ||
[[Category: Beta barrel]] | [[Category: Beta barrel]] | ||
[[Category: Fad-binding domain]] | [[Category: Fad-binding domain]] | ||