3f31

From Proteopedia

proteopedia linkproteopedia link

Template:STRUCTURE 3f31

Contents 1 Crystal Structure of the N-terminal region of AlphaII-spectrin Tetramerization Domain 2 Disease 3 Function 4 About this Structure 5 See Also 6 Reference

Crystal Structure of the N-terminal region of AlphaII-spectrin Tetramerization Domain

Template:ABSTRACT PUBMED 20228407

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.

About this Structure

3f31 is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

See Also

• Spectrin

Reference

• Mehboob S, Song Y, Witek M, Long F, Santarsiero BD, Johnson ME, Fung LW. Crystal structure of the nonerythroid alpha-spectrin tetramerization site reveals differences between erythroid and nonerythroid spectrin tetramer formation. J Biol Chem. 2010 May 7;285(19):14572-84. Epub 2010 Mar 14. PMID:20228407 doi:10.1074/jbc.M109.080028

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