1c4z: Difference between revisions

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== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[1c4z]] is a 4 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=1C4Z OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1C4Z FirstGlance]. <br>
<table><tr><td colspan='2'>[[1c4z]] is a 4 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=1C4Z OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1C4Z FirstGlance]. <br>
</td></tr><tr><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[1ubq|1ubq]], [[1d5f|1d5f]]</td></tr>
</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[1ubq|1ubq]], [[1d5f|1d5f]]</td></tr>
<tr><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Ubiquitin--protein_ligase Ubiquitin--protein ligase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=6.3.2.19 6.3.2.19] </span></td></tr>
<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Ubiquitin--protein_ligase Ubiquitin--protein ligase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=6.3.2.19 6.3.2.19] </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=1c4z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1c4z OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1c4z RCSB], [http://www.ebi.ac.uk/pdbsum/1c4z 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=1c4z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1c4z OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1c4z RCSB], [http://www.ebi.ac.uk/pdbsum/1c4z PDBsum]</span></td></tr>
<table>
</table>
== Disease ==
== Disease ==
[[http://www.uniprot.org/uniprot/UBE3A_HUMAN UBE3A_HUMAN]] Defects in UBE3A are a cause of Angelman syndrome (AS) [MIM:[http://omim.org/entry/105830 105830]]; also known as 'happy puppet syndrome'. AS is characterized by features of severe motor and intellectual retardation, microcephaly, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, hyperactivity, hypopigmentation, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, and an unusual facies characterized by macrostomia, a large mandible and open-mouthed expression, a great propensity for protruding the tongue ('tongue thrusting'), and an occipital groove.<ref>PMID:10508479</ref> <ref>PMID:9585605</ref>   
[[http://www.uniprot.org/uniprot/UBE3A_HUMAN UBE3A_HUMAN]] Defects in UBE3A are a cause of Angelman syndrome (AS) [MIM:[http://omim.org/entry/105830 105830]]; also known as 'happy puppet syndrome'. AS is characterized by features of severe motor and intellectual retardation, microcephaly, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, hyperactivity, hypopigmentation, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, and an unusual facies characterized by macrostomia, a large mandible and open-mouthed expression, a great propensity for protruding the tongue ('tongue thrusting'), and an occipital groove.<ref>PMID:10508479</ref> <ref>PMID:9585605</ref>   
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[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Ubiquitin--protein ligase]]
[[Category: Ubiquitin--protein ligase]]
[[Category: Beaudenon, S.]]
[[Category: Beaudenon, S]]
[[Category: Howley, P M.]]
[[Category: Howley, P M]]
[[Category: Huang, L.]]
[[Category: Huang, L]]
[[Category: Huibregtse, J M.]]
[[Category: Huibregtse, J M]]
[[Category: Kinnucan, E.]]
[[Category: Kinnucan, E]]
[[Category: Pavletich, N P.]]
[[Category: Pavletich, N P]]
[[Category: Wang, G.]]
[[Category: Wang, G]]
[[Category: Bilobal structure]]
[[Category: Bilobal structure]]
[[Category: E2 ubiquitin conjugating enzyme]]
[[Category: E2 ubiquitin conjugating enzyme]]

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