The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia
- PMID: 12676568
- DOI: 10.1016/s0888-7543(03)00011-9
The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia
Abstract
Multiple sequence alignment has revealed the presence of a sequence domain of approximately 80 amino acids in two molecules, spartin and spastin, mutated in hereditary spastic paraplegia. The domain, which corresponds to a slightly extended version of the recently described ESP domain of unknown function, was also identified in VPS4, SKD1, RPK118, and SNX15, all of which have a well established and consistent role in endosomal trafficking. Recent functional information indicates that spastin is likely to be involved in microtubule interaction. With this new information relating to its likely function, we propose the more descriptive name 'MIT' (contained within microtubule-interacting and trafficking molecules) for the domain and predict endosomal trafficking as the principal functionality of all molecules in which it is present.
Similar articles
-
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.Nat Genet. 2002 Aug;31(4):347-8. doi: 10.1038/ng937. Epub 2002 Jul 22. Nat Genet. 2002. PMID: 12134148
-
The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B.Hum Mol Genet. 2005 Jan 1;14(1):19-38. doi: 10.1093/hmg/ddi003. Epub 2004 Nov 10. Hum Mol Genet. 2005. PMID: 15537668
-
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.Hum Mol Genet. 2002 Jan 15;11(2):153-63. doi: 10.1093/hmg/11.2.153. Hum Mol Genet. 2002. PMID: 11809724
-
[Recent progress in genetic study of hereditary spastic paraplegia].No To Shinkei. 2003 Sep;55(9):757-63. No To Shinkei. 2003. PMID: 14571837 Review. Japanese. No abstract available.
-
Hereditary spastic paraplegia: spastin phenotype and function.Arch Neurol. 2004 Jun;61(6):830-3. doi: 10.1001/archneur.61.6.830. Arch Neurol. 2004. PMID: 15210518 Review. No abstract available.
Cited by
-
Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia.Brain Sci. 2021 May 11;11(5):614. doi: 10.3390/brainsci11050614. Brain Sci. 2021. PMID: 34064836 Free PMC article.
-
Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking.Mol Biol Cell. 2007 May;18(5):1683-92. doi: 10.1091/mbc.e06-09-0833. Epub 2007 Mar 1. Mol Biol Cell. 2007. PMID: 17332501 Free PMC article.
-
Further characterization of the signaling proteolysis step in the Aspergillus nidulans pH signal transduction pathway.Eukaryot Cell. 2007 Jun;6(6):960-70. doi: 10.1128/EC.00047-07. Epub 2007 Apr 6. Eukaryot Cell. 2007. PMID: 17416893 Free PMC article.
-
Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing.J Cell Biol. 2005 Feb 14;168(4):599-606. doi: 10.1083/jcb.200409058. J Cell Biol. 2005. PMID: 15716377 Free PMC article.
-
Lipid Droplets in the Pathogenesis of Hereditary Spastic Paraplegia.Front Mol Biosci. 2021 May 10;8:673977. doi: 10.3389/fmolb.2021.673977. eCollection 2021. Front Mol Biosci. 2021. PMID: 34041268 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Molecular Biology Databases
