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{{STRUCTURE_3fb2|  PDB=3fb2  |  SCENE=  }}
==Crystal structure of the human brain alpha spectrin repeats 15 and 16. Northeast Structural Genomics Consortium target HR5563a.==
===Crystal structure of the human brain alpha spectrin repeats 15 and 16. Northeast Structural Genomics Consortium target HR5563a.===
<StructureSection load='3fb2' size='340' side='right' caption='[[3fb2]], [[Resolution|resolution]] 2.30&Aring;' scene=''>
 
== Structural highlights ==
==Disease==
<table><tr><td colspan='2'>[[3fb2]] is a 2 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=3FB2 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3FB2 FirstGlance]. <br>
[[http://www.uniprot.org/uniprot/SPTA2_HUMAN SPTA2_HUMAN]] Defects in SPTAN1 are the cause of epileptic encephalopathy early infantile type 5 (EIEE5) [MIM:[http://omim.org/entry/613477 613477]]. EIEE5 is a disorder characterized by seizures associated with hypsarrhythmia profound mental retardation with lack of visual attention and speech development, as well as spastic quadriplegia.<ref>PMID:20493457</ref>  
</td></tr><tr id='NonStdRes'><td class="sblockLbl"><b>[[Non-Standard_Residue|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=MSE:SELENOMETHIONINE'>MSE</scene></td></tr>
 
<tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[1u5p|1u5p]]</td></tr>
==Function==
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">SPTA2, SPTAN1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</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=3fb2 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3fb2 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=3fb2 RCSB], [http://www.ebi.ac.uk/pdbsum/3fb2 PDBsum], [http://www.topsan.org/Proteins/NESGC/3fb2 TOPSAN]</span></td></tr>
</table>
== Disease ==
[[http://www.uniprot.org/uniprot/SPTA2_HUMAN SPTA2_HUMAN]] Defects in SPTAN1 are the cause of epileptic encephalopathy early infantile type 5 (EIEE5) [MIM:[http://omim.org/entry/613477 613477]]. EIEE5 is a disorder characterized by seizures associated with hypsarrhythmia profound mental retardation with lack of visual attention and speech development, as well as spastic quadriplegia.<ref>PMID:20493457</ref>
== Function ==
[[http://www.uniprot.org/uniprot/SPTA2_HUMAN SPTA2_HUMAN]] Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane.  
[[http://www.uniprot.org/uniprot/SPTA2_HUMAN SPTA2_HUMAN]] Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane.  
==About this Structure==
[[3fb2]] is a 2 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=3FB2 OCA].


==See Also==
==See Also==
*[[Spectrin|Spectrin]]
*[[Spectrin|Spectrin]]
 
== References ==
==Reference==
<references/>
<references group="xtra"/><references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Acton, T B.]]
[[Category: Acton, T B]]
[[Category: Ciccosanti, C.]]
[[Category: Ciccosanti, C]]
[[Category: Foote, E L.]]
[[Category: Foote, E L]]
[[Category: Hunt, J F.]]
[[Category: Hunt, J F]]
[[Category: Janjua, H.]]
[[Category: Janjua, H]]
[[Category: Montelione, G T.]]
[[Category: Montelione, G T]]
[[Category: NESG, Northeast Structural Genomics Consortium.]]
[[Category: Structural genomic]]
[[Category: Seetharaman, J.]]
[[Category: Seetharaman, J]]
[[Category: Shastry, R.]]
[[Category: Shastry, R]]
[[Category: Su, M.]]
[[Category: Su, M]]
[[Category: Tong, L.]]
[[Category: Tong, L]]
[[Category: Vorobiev, S M.]]
[[Category: Vorobiev, S M]]
[[Category: Xiao, R.]]
[[Category: Xiao, R]]
[[Category: Actin capping]]
[[Category: Actin capping]]
[[Category: Actin-binding]]
[[Category: Actin-binding]]
Line 39: Line 42:
[[Category: Nesg]]
[[Category: Nesg]]
[[Category: Non-erythroid alpha chain alpha-ii spectrin]]
[[Category: Non-erythroid alpha chain alpha-ii spectrin]]
[[Category: Northeast structural genomics consortium]]
[[Category: Phosphoprotein]]
[[Category: Phosphoprotein]]
[[Category: Protein structure initiative]]
[[Category: PSI, Protein structure initiative]]
[[Category: Psi-2]]
[[Category: Sh3 domain]]
[[Category: Sh3 domain]]
[[Category: Spectrin alpha chain]]
[[Category: Spectrin alpha chain]]
[[Category: Spta2_human]]
[[Category: Spta2_human]]
[[Category: Sptan1]]
[[Category: Sptan1]]
[[Category: Structural genomic]]
[[Category: Structural protein]]
[[Category: Structural protein]]

Revision as of 16:38, 18 December 2014

Crystal structure of the human brain alpha spectrin repeats 15 and 16. Northeast Structural Genomics Consortium target HR5563a.Crystal structure of the human brain alpha spectrin repeats 15 and 16. Northeast Structural Genomics Consortium target HR5563a.

Structural highlights

3fb2 is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
NonStd Res:
Gene:SPTA2, SPTAN1 (Homo sapiens)
Resources:FirstGlance, OCA, RCSB, PDBsum, TOPSAN

Disease

[SPTA2_HUMAN] Defects in SPTAN1 are the cause of epileptic encephalopathy early infantile type 5 (EIEE5) [MIM:613477]. EIEE5 is a disorder characterized by seizures associated with hypsarrhythmia profound mental retardation with lack of visual attention and speech development, as well as spastic quadriplegia.[1]

Function

[SPTA2_HUMAN] Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane.

See Also

References

  1. ↑ Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S, Ogata K, Kato M, Fukuda A, Matsumoto N. Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. Am J Hum Genet. 2010 Jun 11;86(6):881-91. doi: 10.1016/j.ajhg.2010.04.013. Epub, 2010 May 20. PMID:20493457 doi:10.1016/j.ajhg.2010.04.013

3fb2, resolution 2.30Å

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