4uxy

Structural highlights

Disease

[KIF5A_HUMAN] Autosomal dominant spastic paraplegia type 10;Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation. The disease is caused by mutations affecting the gene represented in this entry.^{[1] [2] [3] [4] [5] [6] [7] [8]}

Function

[TBA1B_BOVIN] Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. [KIF5A_HUMAN] Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL) (By similarity). [TBB2B_BOVIN] Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity).

See Also

• Kinesin
• Tubulin

References

1. ↑ Reid E, Kloos M, Ashley-Koch A, Hughes L, Bevan S, Svenson IK, Graham FL, Gaskell PC, Dearlove A, Pericak-Vance MA, Rubinsztein DC, Marchuk DA. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet. 2002 Nov;71(5):1189-94. Epub 2002 Sep 24. PMID:12355402 doi:http://dx.doi.org/10.1086/344210
2. ↑ Fichera M, Lo Giudice M, Falco M, Sturnio M, Amata S, Calabrese O, Bigoni S, Calzolari E, Neri M. Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. Neurology. 2004 Sep 28;63(6):1108-10. PMID:15452312
3. ↑ Lo Giudice M, Neri M, Falco M, Sturnio M, Calzolari E, Di Benedetto D, Fichera M. A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia. Arch Neurol. 2006 Feb;63(2):284-7. PMID:16476820 doi:http://dx.doi.org/10.1001/archneur.63.2.284
4. ↑ Blair MA, Ma S, Hedera P. Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia. Neurogenetics. 2006 Mar;7(1):47-50. Epub 2006 Feb 18. PMID:16489470 doi:http://dx.doi.org/10.1007/s10048-005-0027-8
5. ↑ Ebbing B, Mann K, Starosta A, Jaud J, Schols L, Schule R, Woehlke G. Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity. Hum Mol Genet. 2008 May 1;17(9):1245-52. doi: 10.1093/hmg/ddn014. Epub 2008 Jan, 18. PMID:18203753 doi:http://dx.doi.org/10.1093/hmg/ddn014
6. ↑ Schule R, Kremer BP, Kassubek J, Auer-Grumbach M, Kostic V, Klopstock T, Klimpe S, Otto S, Boesch S, van de Warrenburg BP, Schols L. SPG10 is a rare cause of spastic paraplegia in European families. J Neurol Neurosurg Psychiatry. 2008 May;79(5):584-7. doi:, 10.1136/jnnp.2007.137596. Epub 2008 Feb 1. PMID:18245137 doi:http://dx.doi.org/10.1136/jnnp.2007.137596
7. ↑ Goizet C, Boukhris A, Mundwiller E, Tallaksen C, Forlani S, Toutain A, Carriere N, Paquis V, Depienne C, Durr A, Stevanin G, Brice A. Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat. 2009 Feb;30(2):E376-85. doi: 10.1002/humu.20920. PMID:18853458 doi:http://dx.doi.org/10.1002/humu.20920
8. ↑ Musumeci O, Bassi MT, Mazzeo A, Grandis M, Crimella C, Martinuzzi A, Toscano A. A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. Neurol Sci. 2011 Aug;32(4):665-8. doi: 10.1007/s10072-010-0445-8. Epub 2010 Nov, 24. PMID:21107874 doi:http://dx.doi.org/10.1007/s10072-010-0445-8
9. ↑ Atherton J, Farabella I, Yu IM, Rosenfeld SS, Houdusse A, Topf M, Moores CA. Conserved mechanisms of microtubule-stimulated ADP release, ATP binding, and force generation in transport kinesins. Elife. 2014 Sep 10:e03680. doi: 10.7554/eLife.03680. PMID:25209998 doi:http://dx.doi.org/10.7554/eLife.03680