1d5f: Difference between revisions
No edit summary |
No edit summary |
||
| Line 3: | Line 3: | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[1d5f]] is a 3 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=1D5F OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1D5F FirstGlance]. <br> | <table><tr><td colspan='2'>[[1d5f]] is a 3 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=1D5F OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1D5F FirstGlance]. <br> | ||
</td></tr><tr><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[1ubq|1ubq]]</td></tr> | </td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[1ubq|1ubq]]</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=1d5f FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1d5f OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1d5f RCSB], [http://www.ebi.ac.uk/pdbsum/1d5f 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=1d5f FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1d5f OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1d5f RCSB], [http://www.ebi.ac.uk/pdbsum/1d5f 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> | ||
| Line 36: | Line 36: | ||
</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[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: E3 ligase]] | [[Category: E3 ligase]] | ||
[[Category: Elongated shape]] | [[Category: Elongated shape]] | ||
[[Category: Ligase]] | [[Category: Ligase]] | ||