1r3r: Difference between revisions
No edit summary |
No edit summary |
||
| Line 3: | Line 3: | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[1r3r]] 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=1R3R OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1R3R FirstGlance]. <br> | <table><tr><td colspan='2'>[[1r3r]] 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=1R3R OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1R3R FirstGlance]. <br> | ||
</td></tr><tr><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[1uro|1uro]], [[1r3q|1r3q]], [[1r3s|1r3s]], [[1r3t|1r3t]], [[1r3v|1r3v]], [[1r3w|1r3w]], [[1r3y|1r3y]]</td></tr> | </td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[1uro|1uro]], [[1r3q|1r3q]], [[1r3s|1r3s]], [[1r3t|1r3t]], [[1r3v|1r3v]], [[1r3w|1r3w]], [[1r3y|1r3y]]</td></tr> | ||
<tr><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Uroporphyrinogen_decarboxylase Uroporphyrinogen decarboxylase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=4.1.1.37 4.1.1.37] </span></td></tr> | <tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Uroporphyrinogen_decarboxylase Uroporphyrinogen decarboxylase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=4.1.1.37 4.1.1.37] </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=1r3r FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1r3r OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1r3r RCSB], [http://www.ebi.ac.uk/pdbsum/1r3r 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=1r3r FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1r3r OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1r3r RCSB], [http://www.ebi.ac.uk/pdbsum/1r3r PDBsum]</span></td></tr> | ||
<table> | </table> | ||
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/DCUP_HUMAN DCUP_HUMAN]] Defects in UROD are the cause of familial porphyria cutanea tarda (FPCT) [MIM:[http://omim.org/entry/176100 176100]]; also known as porphyria cutanea tarda type II. FPCT is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. Besides the familial form of PCT, a relatively common idiosyncratic form is known in which only the liver enzyme is reduced. This form is referred to as porphyria cutanea tarda "sporadic" type or type I [MIM:[http://omim.org/entry/176090 176090]]. PCT type I occurs sporadically as an unusual accompaniment of common hepatic disorders such as alcohol-associated liver disease.<ref>PMID:2243121</ref> <ref>PMID:11719352</ref> <ref>PMID:2920211</ref> <ref>PMID:7706766</ref> <ref>PMID:8896428</ref> <ref>PMID:9792863</ref> <ref>PMID:10338097</ref> <ref>PMID:10477430</ref> <ref>PMID:11069625</ref> <ref>PMID:11295834</ref> Defects in UROD are the cause of hepatoerythropoietic porphyria (HEP) [MIM:[http://omim.org/entry/176100 176100]]. HEP is a rare autosomal recessive disorder. It is the severe form of cutaneous porphyria, and presents in infancy. The level of UROD is very low in erythrocytes and cultured skin fibroblasts, suggesting that HEP is the homozygous state for porphyria cutanea tarda.<ref>PMID:8896428</ref> <ref>PMID:8644733</ref> <ref>PMID:3775362</ref> <ref>PMID:1905636</ref> <ref>PMID:1634232</ref> <ref>PMID:8176248</ref> <ref>PMID:12071824</ref> <ref>PMID:15491440</ref> <ref>PMID:17240319</ref> <ref>PMID:21668429</ref> | [[http://www.uniprot.org/uniprot/DCUP_HUMAN DCUP_HUMAN]] Defects in UROD are the cause of familial porphyria cutanea tarda (FPCT) [MIM:[http://omim.org/entry/176100 176100]]; also known as porphyria cutanea tarda type II. FPCT is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. Besides the familial form of PCT, a relatively common idiosyncratic form is known in which only the liver enzyme is reduced. This form is referred to as porphyria cutanea tarda "sporadic" type or type I [MIM:[http://omim.org/entry/176090 176090]]. PCT type I occurs sporadically as an unusual accompaniment of common hepatic disorders such as alcohol-associated liver disease.<ref>PMID:2243121</ref> <ref>PMID:11719352</ref> <ref>PMID:2920211</ref> <ref>PMID:7706766</ref> <ref>PMID:8896428</ref> <ref>PMID:9792863</ref> <ref>PMID:10338097</ref> <ref>PMID:10477430</ref> <ref>PMID:11069625</ref> <ref>PMID:11295834</ref> Defects in UROD are the cause of hepatoerythropoietic porphyria (HEP) [MIM:[http://omim.org/entry/176100 176100]]. HEP is a rare autosomal recessive disorder. It is the severe form of cutaneous porphyria, and presents in infancy. The level of UROD is very low in erythrocytes and cultured skin fibroblasts, suggesting that HEP is the homozygous state for porphyria cutanea tarda.<ref>PMID:8896428</ref> <ref>PMID:8644733</ref> <ref>PMID:3775362</ref> <ref>PMID:1905636</ref> <ref>PMID:1634232</ref> <ref>PMID:8176248</ref> <ref>PMID:12071824</ref> <ref>PMID:15491440</ref> <ref>PMID:17240319</ref> <ref>PMID:21668429</ref> | ||
| Line 35: | Line 35: | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Uroporphyrinogen decarboxylase]] | [[Category: Uroporphyrinogen decarboxylase]] | ||
[[Category: Hill, C P | [[Category: Hill, C P]] | ||
[[Category: Kushner, J P | [[Category: Kushner, J P]] | ||
[[Category: Phillips, J D | [[Category: Phillips, J D]] | ||
[[Category: Whitby, F G | [[Category: Whitby, F G]] | ||
[[Category: Lyase]] | [[Category: Lyase]] | ||
[[Category: Uroporphyrinogen decarboxylase coproporphyrinogen]] | [[Category: Uroporphyrinogen decarboxylase coproporphyrinogen]] | ||
[[Category: X-ray crystallography]] | [[Category: X-ray crystallography]] | ||