1wjm
From Proteopedia
(Difference between revisions)
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<StructureSection load='1wjm' size='340' side='right'caption='[[1wjm]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | <StructureSection load='1wjm' size='340' side='right'caption='[[1wjm]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
- | <table><tr><td colspan='2'>[[1wjm]] is a 1 chain structure with sequence from [ | + | <table><tr><td colspan='2'>[[1wjm]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1WJM OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1WJM FirstGlance]. <br> |
- | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">KAZUSA cDNA hf00409 ([ | + | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">KAZUSA cDNA hf00409 ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr> |
- | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[ | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=1wjm FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1wjm OCA], [https://pdbe.org/1wjm PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1wjm RCSB], [https://www.ebi.ac.uk/pdbsum/1wjm PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1wjm ProSAT], [https://www.topsan.org/Proteins/RSGI/1wjm TOPSAN]</span></td></tr> |
</table> | </table> | ||
== Disease == | == Disease == | ||
- | [[ | + | [[https://www.uniprot.org/uniprot/SPTN2_HUMAN SPTN2_HUMAN]] Defects in SPTBN2 are the cause of spinocerebellar ataxia type 5 (SCA5) [MIM:[https://omim.org/entry/600224 600224]]. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder with variable age at onset, ranging between 10 and 50 years.<ref>PMID:16429157</ref> |
== Function == | == Function == | ||
- | [[ | + | [[https://www.uniprot.org/uniprot/SPTN2_HUMAN SPTN2_HUMAN]] Probably plays an important role in neuronal membrane skeleton. |
== Evolutionary Conservation == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] |
Revision as of 06:57, 2 March 2022
Solution structure of pleckstrin homology domain of human beta III spectrin.
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Categories: Human | Large Structures | Inoue, M | Kigawa, T | Koshiba, S | Structural genomic | Sato, M | Tochio, N | Yokoyama, S | Brain 2 | Kiaa0302 | Ph domain | Rsgi | Signal transduction | Signaling protein | Spectrin beta chain