1x5t
From Proteopedia
(Difference between revisions)
| Line 3: | Line 3: | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[1x5t]] 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=1X5T OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1X5T FirstGlance]. <br> | <table><tr><td colspan='2'>[[1x5t]] 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=1X5T OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1X5T 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=1x5t FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1x5t OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1x5t RCSB], [http://www.ebi.ac.uk/pdbsum/1x5t PDBsum], [http://www.topsan.org/Proteins/RSGI/1x5t 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=1x5t FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1x5t OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1x5t RCSB], [http://www.ebi.ac.uk/pdbsum/1x5t PDBsum], [http://www.topsan.org/Proteins/RSGI/1x5t 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> | ||
| Line 28: | Line 28: | ||
</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: 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: Structural genomic]] | ||
| - | [[Category: Structure genomic]] | ||
Revision as of 13:55, 6 January 2015
Solution structure of the second RRM domain in splicing factor = 3B
| |||||||||||
