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1x5u
From Proteopedia
(Difference between revisions)
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== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[1x5u]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1X5U OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1X5U FirstGlance]. <br> | <table><tr><td colspan='2'>[[1x5u]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1X5U OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1X5U FirstGlance]. <br> | ||
| - | </td></tr><tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">SF3B4, SAP49 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> | + | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">SF3B4, SAP49 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</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=1x5u FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1x5u OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1x5u RCSB], [http://www.ebi.ac.uk/pdbsum/1x5u PDBsum], [http://www.topsan.org/Proteins/RSGI/1x5u TOPSAN]</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=1x5u FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1x5u OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1x5u RCSB], [http://www.ebi.ac.uk/pdbsum/1x5u PDBsum], [http://www.topsan.org/Proteins/RSGI/1x5u TOPSAN]</span></td></tr> |
| - | <table> | + | </table> |
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/SF3B4_HUMAN SF3B4_HUMAN]] Defects in SF3B4 are the cause of acrofacial dysostosis type 1 (AFD1) [MIM:[http://omim.org/entry/154400 154400]]. AFD1 is a form of acrofacial dysostosis, a group of disorders which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of AFD1 include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hyoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported.<ref>PMID:22541558</ref> | [[http://www.uniprot.org/uniprot/SF3B4_HUMAN SF3B4_HUMAN]] Defects in SF3B4 are the cause of acrofacial dysostosis type 1 (AFD1) [MIM:[http://omim.org/entry/154400 154400]]. AFD1 is a form of acrofacial dysostosis, a group of disorders which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of AFD1 include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hyoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported.<ref>PMID:22541558</ref> | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
| - | [[Category: Inoue, M | + | [[Category: Inoue, M]] |
| - | [[Category: Kigawa, T | + | [[Category: Kigawa, T]] |
| - | [[Category: Kuwasako, K | + | [[Category: Kuwasako, K]] |
| - | [[Category: Muto, Y | + | [[Category: Muto, Y]] |
| - | [[Category: | + | [[Category: Structural genomic]] |
| - | [[Category: Sato, A | + | [[Category: Sato, A]] |
| - | [[Category: Shirouzu, M | + | [[Category: Shirouzu, M]] |
| - | [[Category: Terada, T | + | [[Category: Terada, T]] |
| - | [[Category: Yokoyama, S | + | [[Category: Yokoyama, S]] |
[[Category: National project on protein structural and functional analyse]] | [[Category: National project on protein structural and functional analyse]] | ||
[[Category: Nmr]] | [[Category: Nmr]] | ||
[[Category: Nppsfa]] | [[Category: Nppsfa]] | ||
| - | [[Category: Riken structural genomics/proteomics initiative]] | ||
[[Category: Rna binding protein]] | [[Category: Rna binding protein]] | ||
[[Category: Rrm domain]] | [[Category: Rrm domain]] | ||
[[Category: Rsgi]] | [[Category: Rsgi]] | ||
[[Category: Splicing factor 3b]] | [[Category: Splicing factor 3b]] | ||
| - | [[Category: Structural genomic]] | ||
| - | [[Category: Structure genomic]] | ||
Revision as of 13:34, 6 January 2015
Solution structure of RRM domain in splicing factor 3B
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