3fb2: Difference between revisions
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{{STRUCTURE_3fb2| PDB=3fb2 | SCENE= }} | {{STRUCTURE_3fb2| PDB=3fb2 | SCENE= }} | ||
===Crystal structure of the human brain alpha spectrin repeats 15 and 16. Northeast Structural Genomics Consortium target HR5563a.=== | |||
=== | ==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. | |||
==About this Structure== | ==About this Structure== | ||
| Line 11: | Line 13: | ||
==See Also== | ==See Also== | ||
*[[Spectrin|Spectrin]] | *[[Spectrin|Spectrin]] | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Acton, T B.]] | [[Category: Acton, T B.]] | ||
Revision as of 09:40, 25 March 2013
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.
DiseaseDisease
[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]
FunctionFunction
[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 StructureAbout this Structure
3fb2 is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See AlsoSee Also
ReferenceReference
- ↑ 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
Proteopedia Page Contributors and Editors (what is this?)Proteopedia Page Contributors and Editors (what is this?)
OCACategories:
- Homo sapiens
- Acton, T B.
- Ciccosanti, C.
- Foote, E L.
- Hunt, J F.
- Janjua, H.
- Montelione, G T.
- NESG, Northeast Structural Genomics Consortium.
- Seetharaman, J.
- Shastry, R.
- Su, M.
- Tong, L.
- Vorobiev, S M.
- Xiao, R.
- Actin capping
- Actin-binding
- Brain spectrin
- Calmodulin-binding
- Cytoskeleton
- Fordrin alpha chain
- Hr5563a
- Nesg
- Non-erythroid alpha chain alpha-ii spectrin
- Northeast structural genomics consortium
- Phosphoprotein
- Protein structure initiative
- Psi-2
- Sh3 domain
- Spectrin alpha chain
- Spta2 human
- Sptan1
- Structural genomic
- Structural protein