SPG20
Spartin is a protein that in humans is encoded by the SPG20 gene.[1][2][3]
This gene encodes a protein that contains a MIT (Microtubule Interacting and Trafficking molecule) domain. This protein may be involved in endosomal trafficking, microtubule dynamics, or both functions. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome).[3]
External Links
References
- ^ Cross HE, McKusick VA (Jun 1967). "The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting". Arch Neurol 16 (5): 473–85. PMID 6022528.
- ^ Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH (Jul 2002). "SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia". Nat Genet 31 (4): 347–8. doi:10.1038/ng937. PMID 12134148.
- ^ a b "Entrez Gene: SPG20 spastic paraplegia 20, spartin (Troyer syndrome)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23111.
Further reading
- Hillier LD, Lennon G, Becker M, et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags.". Genome Res. 6 (9): 807–28. doi:10.1101/gr.6.9.807. PMID 8889549.
- Nagase T, Ishikawa K, Miyajima N, et al. (1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.". DNA Res. 5 (1): 31–9. doi:10.1093/dnares/5.1.31. PMID 9628581.
- Auer-Grumbach M, Fazekas F, Radner H, et al. (1999). "Troyer syndrome: a combination of central brain abnormality and motor neuron disease?". J. Neurol. 246 (7): 556–61. doi:10.1007/s004150050403. PMID 10463356.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Ciccarelli FD, Proukakis C, Patel H, et al. (2003). "The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.". Genomics 81 (4): 437–41. doi:10.1016/S0888-7543(03)00011-9. PMID 12676568.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Dunham A, Matthews LH, Burton J, et al. (2004). "The DNA sequence and analysis of human chromosome 13.". Nature 428 (6982): 522–8. doi:10.1038/nature02379. PMC 2665288. PMID 15057823. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2665288.
- Liu M, Liu Y, Cheng J, et al. (2004). "Transactivating effect of hepatitis C virus core protein: a suppression subtractive hybridization study.". World J. Gastroenterol. 10 (12): 1746–9. PMID 15188498.
- Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway.". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=442148.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Bakowska JC, Jenkins R, Pendleton J, Blackstone C (2005). "The Troyer syndrome (SPG20) protein spartin interacts with Eps15.". Biochem. Biophys. Res. Commun. 334 (4): 1042–8. doi:10.1016/j.bbrc.2005.06.201. PMID 16036216.
- Lu J, Rashid F, Byrne PC (2006). "The hereditary spastic paraplegia protein spartin localises to mitochondria.". J. Neurochem. 98 (6): 1908–19. doi:10.1111/j.1471-4159.2006.04008.x. PMID 16945107.
- Bakowska JC, Jupille H, Fatheddin P, et al. (2007). "Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking.". Mol. Biol. Cell 18 (5): 1683–92. doi:10.1091/mbc.E06-09-0833. PMC 1855030. PMID 17332501. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1855030.
|
PDB gallery
|
|
|
|
2dl1: Solution structure of the MIT domain from human Spartin
|
|
|
|