Atlastin
Atlastin, or Atlastin-1, is a protein that in humans is encoded by the ATL1 gene.[5][6][7][8]
| ATL1 | |||||||||||||||||||||||||
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| Aliases | ATL1, AD-FSP, FSP1, GBP3, HSN1D, SPG3, SPG3A, atlastin1, Atlastin, atlastin GTPase 1 | ||||||||||||||||||||||||
| External IDs | OMIM: 606439 MGI: 1921241 HomoloGene: 9302 GeneCards: ATL1 | ||||||||||||||||||||||||
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| Species | Human | Mouse | |||||||||||||||||||||||
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| Location (UCSC) | Chr 14: 50.53 – 50.63 Mb | Chr 12: 69.94 – 70.01 Mb | |||||||||||||||||||||||
| PubMed search | [3] | [4] | |||||||||||||||||||||||
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References
- GRCh38: Ensembl release 89: ENSG00000198513 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000021066 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- Zhao X, Alvarado D, Rainier S, Lemons R, Hedera P, Weber CH, et al. (November 2001). "Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia". Nature Genetics. 29 (3): 326–31. doi:10.1038/ng758. PMID 11685207.
- Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J (October 1993). "Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q". Nature Genetics. 5 (2): 163–7. doi:10.1038/ng1093-163. PMID 8252041.
- Gispert S, Santos N, Damen R, Voit T, Schulz J, Klockgether T, et al. (January 1995). "Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity". American Journal of Human Genetics. 56 (1): 183–7. PMC 1801298. PMID 7825576.
- "Entrez Gene: SPG3A spastic paraplegia 3A (autosomal dominant)".
External links
- GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia 3A
- Human ATL1 genome location and ATL1 gene details page in the UCSC Genome Browser.
- Human GBP3 genome location and GBP3 gene details page in the UCSC Genome Browser.
Further reading
- Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (April 1996). "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
- Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, et al. (April 1997). "Large-scale concatenation cDNA sequencing". Genome Research. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Zhao X, Alvarado D, Rainier S, Lemons R, Hedera P, Weber CH, et al. (November 2001). "Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia". Nature Genetics. 29 (3): 326–31. doi:10.1038/ng758. PMID 11685207.
- Muglia M, Magariello A, Nicoletti G, Patitucci A, Gabriele AL, Conforti FL, et al. (June 2002). "Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia". Annals of Neurology. 51 (6): 794–5. doi:10.1002/ana.10185. PMID 12112092.
- Luan Z, Zhang Y, Liu A, Man Y, Cheng L, Hu G (October 2002). "A novel GTP-binding protein hGBP3 interacts with NIK/HGK". FEBS Letters. 530 (1–3): 233–8. doi:10.1016/S0014-5793(02)03467-1. PMID 12387898.
- Tessa A, Casali C, Damiano M, Bruno C, Fortini D, Patrono C, et al. (December 2002). "SPG3A: An additional family carrying a new atlastin mutation". Neurology. 59 (12): 2002–5. doi:10.1212/01.wnl.0000036902.21438.98. PMID 12499504.
- Dalpozzo F, Rossetto MG, Boaretto F, Sartori E, Mostacciuolo ML, Daga A, et al. (August 2003). "Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation". Neurology. 61 (4): 580–1. doi:10.1212/01.wnl.0000078189.73611.df. PMID 12939451.
- Zhu PP, Patterson A, Lavoie B, Stadler J, Shoeb M, Patel R, Blackstone C (December 2003). "Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin". The Journal of Biological Chemistry. 278 (49): 49063–71. doi:10.1074/jbc.M306702200. PMID 14506257.
- Wilkinson PA, Hart PE, Patel H, Warner TT, Crosby AH (December 2003). "SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia". Journal of the Neurological Sciences. 216 (1): 43–5. doi:10.1016/S0022-510X(03)00210-7. PMID 14607301.
- Sauter SM, Engel W, Neumann LM, Kunze J, Neesen J (January 2004). "Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus". Human Mutation. 23 (1): 98. doi:10.1002/humu.9205. PMID 14695538.
- D'Amico A, Tessa A, Sabino A, Bertini E, Santorelli FM, Servidei S (June 2004). "Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene". Neurology. 62 (11): 2138–9. doi:10.1212/01.wnl.0000127698.88895.85. PMID 15184642.
- Hedera P, Fenichel GM, Blair M, Haines JL (October 2004). "Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia". Archives of Neurology. 61 (10): 1600–3. doi:10.1001/archneur.61.10.1600. PMID 15477516.
- Abel A, Fonknechten N, Hofer A, Dürr A, Cruaud C, Voit T, et al. (December 2004). "Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A". Neurogenetics. 5 (4): 239–43. doi:10.1007/s10048-004-0191-2. PMID 15517445.
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