Atlastin

Atlastin GTPase 1
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 3Q5D​, 3Q5E​, 3QNU​, 3QOF​, 4IDN​, 4IDO​, 4IDP​, 4IDQ​
Identifiers
Symbols	ATL1 ; AD-FSP; FSP1; GBP3; HSN1D; SPG3; SPG3A; atlastin1
External IDs	OMIM: 606439 MGI: 1921241 HomoloGene: 9302 GeneCards: ATL1 Gene
Gene ontology Molecular function • GTPase activity • protein binding • GTP binding • identical protein binding Cellular component • Golgi cis cisterna • Golgi membrane • endoplasmic reticulum • endoplasmic reticulum membrane • Golgi apparatus • integral component of membrane • axon Biological process • endoplasmic reticulum organization • axonogenesis • metabolic process • protein homooligomerization Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	51062	73991
Ensembl	ENSG00000198513	ENSMUSG00000021066
UniProt	Q8WXF7	Q8BH66
RefSeq (mRNA)	NM_001127713	NM_178628
RefSeq (protein)	NP_001121185	NP_848743
Location (UCSC)	Chr 14: 50.53 – 50.63 Mb	Chr 12: 69.89 – 69.96 Mb
PubMed search

Atlastin, or Atlastin-1, is a protein that in humans is encoded by the ATL1 gene.^[1][2][3]

References

1. Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J (Jan 1994). "Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q". Nat Genet 5 (2): 163–7. doi:10.1038/ng1093-163. PMID 8252041.
2. Gispert S, Santos N, Damen R, Voit T, Schulz J, Klockgether T, Orozco G, Kreuz F, Weissenbach J, Auburger G (Feb 1995). "Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity". Am J Hum Genet 56 (1): 183–7. PMC 1801298. PMID 7825576.
3. "Entrez Gene: SPG3A spastic paraplegia 3A (autosomal dominant)".

External links

• GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia 3A

Further reading

• Maruyama K, Sugano S (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; et al. (1996). "A "double adaptor" method for improved shotgun library construction.". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
• Yu W, Andersson B, Worley KC; et al. (1997). "Large-scale concatenation cDNA sequencing.". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (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; et al. (2001). "Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.". Nat. Genet. 29 (3): 326–31. doi:10.1038/ng758. PMID 11685207.
• Muglia M, Magariello A, Nicoletti G; et al. (2002). "Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia.". Ann. Neurol. 51 (6): 794–5. doi:10.1002/ana.10185. PMID 12112092.
• Luan Z, Zhang Y, Liu A; et al. (2002). "A novel GTP-binding protein hGBP3 interacts with NIK/HGK.". FEBS Lett. 530 (1-3): 233–8. doi:10.1016/S0014-5793(02)03467-1. PMID 12387898.
• 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.
• Tessa A, Casali C, Damiano M; et al. (2003). "SPG3A: An additional family carrying a new atlastin mutation.". Neurology 59 (12): 2002–5. doi:10.1212/01.wnl.0000036902.21438.98. PMID 12499504.
• Heilig R, Eckenberg R, Petit JL; et al. (2003). "The DNA sequence and analysis of human chromosome 14.". Nature 421 (6923): 601–7. doi:10.1038/nature01348. PMID 12508121.
• Dalpozzo F, Rossetto MG, Boaretto F; et al. (2004). "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; et al. (2004). "Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin.". J. Biol. Chem. 278 (49): 49063–71. doi:10.1074/jbc.M306702200. PMID 14506257.
• Wilkinson PA, Hart PE, Patel H; et al. (2004). "SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia.". J. Neurol. Sci. 216 (1): 43–5. doi:10.1016/S0022-510X(03)00210-7. PMID 14607301.
• Sauter SM, Engel W, Neumann LM; et al. (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.". Hum. Mutat. 23 (1): 98. doi:10.1002/humu.9205. PMID 14695538.
• D'Amico A, Tessa A, Sabino A; et al. (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 (2004). "Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia.". Arch. Neurol. 61 (10): 1600–3. doi:10.1001/archneur.61.10.1600. PMID 15477516.
• 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.
• Abel A, Fonknechten N, Hofer A; et al. (2005). "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.