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{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Underlinked|date=December 2013}}
'''Atlastin-1''', is a [[protein]] that in [[human]]s is encoded by the ''ATL1'' [[gene]].<ref>{{cite journal | vauthors = Zhao X, Alvarado D, Rainier S, Lemons R, Hedera P, Weber CH, Tukel T, Apak M, Heiman-Patterson T, Ming L, Bui M, Fink JK | display-authors = 6 | title = Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia | journal = Nature Genetics | volume = 29 | issue = 3 | pages = 326–31 | date = November 2001 | pmid = 11685207 | doi = 10.1038/ng758 | s2cid = 3154239 | url = http://www.nature.com/articles/ng758z }}</ref><ref name="pmid8252041">{{cite journal | vauthors = Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J | title = Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q | journal = Nature Genetics | volume = 5 | issue = 2 | pages = 163–7 | date = October 1993 | pmid = 8252041 | doi = 10.1038/ng1093-163 | s2cid = 28541700 }}</ref><ref name="pmid7825576">{{cite journal | vauthors = Gispert S, Santos N, Damen R, Voit T, Schulz J, Klockgether T, Orozco G, Kreuz F, Weissenbach J, Auburger G | display-authors = 6 | title = Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity | journal = American Journal of Human Genetics | volume = 56 | issue = 1 | pages = 183–7 | date = January 1995 | pmid = 7825576 | pmc = 1801298 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SPG3A spastic paraplegia 3A (autosomal dominant)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51062}}</ref>
{{Infobox_gene}}
'''Atlastin''', or '''Atlastin-1''', is a [[protein]] that in humans is encoded by the ''ATL1'' [[gene]].<ref name="pmid8252041">{{cite journal | vauthors = Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J | title = Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q | journal = Nat Genet | volume = 5 | issue = 2 | pages = 163–7 |date=Jan 1994 | pmid = 8252041 | pmc = | doi = 10.1038/ng1093-163 }}</ref><ref name="pmid7825576">{{cite journal | vauthors = Gispert S, Santos N, Damen R, Voit T, Schulz J, Klockgether T, Orozco G, Kreuz F, Weissenbach J, Auburger G | title = Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity | journal = Am J Hum Genet | volume = 56 | issue = 1 | pages = 183–7 |date=Feb 1995 | pmid = 7825576 | pmc = 1801298 | doi = }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SPG3A spastic paraplegia 3A (autosomal dominant)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51062| accessdate = }}</ref>


== References ==
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==References==
{{reflist}}
{{reflist}}


==External links==
== External links ==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=spg3a GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia 3A]
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=spg3a GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia 3A]
* {{UCSC gene info|ATL1}}
* {{UCSC gene info|ATL1}}
* {{UCSC gene info|GBP3}}
* {{UCSC gene info|GBP3}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
* {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1–2 | pages = 171–4 | date = January 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
{{PBB_Further_reading
* {{cite journal | vauthors = Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA | title = A "double adaptor" method for improved shotgun library construction | journal = Analytical Biochemistry | volume = 236 | issue = 1 | pages = 107–13 | date = April 1996 | pmid = 8619474 | doi = 10.1006/abio.1996.0138 }}
| citations =
*{{cite journal | vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}
* {{cite journal | vauthors = Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA | display-authors = 6 | title = Large-scale concatenation cDNA sequencing | journal = Genome Research | volume = 7 | issue = 4 | pages = 353–8 | date = April 1997 | pmid = 9110174 | pmc = 139146 | doi = 10.1101/gr.7.4.353 }}
*{{cite journal | vauthors=Andersson B, Wentland MA, Ricafrente JY |title=A "double adaptor" method for improved shotgun library construction. |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107–13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138 |display-authors=etal}}
* {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1–2 | pages = 149–56 | date = October 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
*{{cite journal | vauthors=Yu W, Andersson B, Worley KC |title=Large-scale concatenation cDNA sequencing. |journal=Genome Res. |volume=7 |issue= 4 |pages= 353–8 |year= 1997 |pmid= 9110174 |doi= 10.1101/gr.7.4.353| pmc=139146 |display-authors=etal}}
* {{cite journal | vauthors = Zhao X, Alvarado D, Rainier S, Lemons R, Hedera P, Weber CH, Tukel T, Apak M, Heiman-Patterson T, Ming L, Bui M, Fink JK | display-authors = 6 | title = Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia | journal = Nature Genetics | volume = 29 | issue = 3 | pages = 326–31 | date = November 2001 | pmid = 11685207 | doi = 10.1038/ng758 | s2cid = 3154239 }}
*{{cite journal | vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3 |display-authors=etal}}
* {{cite journal | vauthors = Muglia M, Magariello A, Nicoletti G, Patitucci A, Gabriele AL, Conforti FL, Mazzei R, Caracciolo M, Ardito B, Lastilla M, Tedeschi G, Quattrone A | display-authors = 6 | title = Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia | journal = Annals of Neurology | volume = 51 | issue = 6 | pages = 794–5 | date = June 2002 | pmid = 12112092 | doi = 10.1002/ana.10185 | s2cid = 28464279 }}
*{{cite journal | vauthors=Zhao X, Alvarado D, Rainier S |title=Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. |journal=Nat. Genet. |volume=29 |issue= 3 |pages= 326–31 |year= 2001 |pmid= 11685207 |doi= 10.1038/ng758 |display-authors=etal}}
* {{cite journal | vauthors = Luan Z, Zhang Y, Liu A, Man Y, Cheng L, Hu G | title = A novel GTP-binding protein hGBP3 interacts with NIK/HGK | journal = FEBS Letters | volume = 530 | issue = 1–3 | pages = 233–8 | date = October 2002 | pmid = 12387898 | doi = 10.1016/S0014-5793(02)03467-1 | doi-access = free }}
*{{cite journal | vauthors=Muglia M, Magariello A, Nicoletti G |title=Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia. |journal=Ann. Neurol. |volume=51 |issue= 6 |pages= 794–5 |year= 2002 |pmid= 12112092 |doi= 10.1002/ana.10185 |display-authors=etal}}
* {{cite journal | vauthors = Tessa A, Casali C, Damiano M, Bruno C, Fortini D, Patrono C, Cricchi F, Valoppi M, Nappi G, Amabile GA, Bertini E, Santorelli FM | display-authors = 6 | title = SPG3A: An additional family carrying a new atlastin mutation | journal = Neurology | volume = 59 | issue = 12 | pages = 2002–5 | date = December 2002 | pmid = 12499504 | doi = 10.1212/01.wnl.0000036902.21438.98 | s2cid = 219222058 }}
*{{cite journal | vauthors=Luan Z, Zhang Y, Liu A |title=A novel GTP-binding protein hGBP3 interacts with NIK/HGK. |journal=FEBS Lett. |volume=530 |issue= 1-3 |pages= 233–8 |year= 2002 |pmid= 12387898 |doi=10.1016/S0014-5793(02)03467-1 |display-authors=etal}}
* {{cite journal | vauthors = Dalpozzo F, Rossetto MG, Boaretto F, Sartori E, Mostacciuolo ML, Daga A, Bassi MT, Martinuzzi A | display-authors = 6 | title = Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation | journal = Neurology | volume = 61 | issue = 4 | pages = 580–1 | date = August 2003 | pmid = 12939451 | doi = 10.1212/01.wnl.0000078189.73611.df | s2cid = 42354115 }}
*{{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
* {{cite journal | vauthors = Zhu PP, Patterson A, Lavoie B, Stadler J, Shoeb M, Patel R, Blackstone C | title = Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin | journal = The Journal of Biological Chemistry | volume = 278 | issue = 49 | pages = 49063–71 | date = December 2003 | pmid = 14506257 | doi = 10.1074/jbc.M306702200 | doi-access = free }}
*{{cite journal | vauthors=Tessa A, Casali C, Damiano M |title=SPG3A: An additional family carrying a new atlastin mutation. |journal=Neurology |volume=59 |issue= 12 |pages= 2002–5 |year= 2003 |pmid= 12499504 |doi= 10.1212/01.wnl.0000036902.21438.98|display-authors=etal}}
* {{cite journal | vauthors = Wilkinson PA, Hart PE, Patel H, Warner TT, Crosby AH | title = SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia | journal = Journal of the Neurological Sciences | volume = 216 | issue = 1 | pages = 43–5 | date = December 2003 | pmid = 14607301 | doi = 10.1016/S0022-510X(03)00210-7 | s2cid = 46209903 }}
*{{cite journal | vauthors=Heilig R, Eckenberg R, Petit JL |title=The DNA sequence and analysis of human chromosome 14. |journal=Nature |volume=421 |issue= 6923 |pages= 601–7 |year= 2003 |pmid= 12508121 |doi= 10.1038/nature01348 |display-authors=etal}}
* {{cite journal | vauthors = Sauter SM, Engel W, Neumann LM, Kunze J, Neesen J | title = 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 | journal = Human Mutation | volume = 23 | issue = 1 | pages = 98 | date = January 2004 | pmid = 14695538 | doi = 10.1002/humu.9205 | doi-access = free }}
*{{cite journal | vauthors=Dalpozzo F, Rossetto MG, Boaretto F |title=Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation. |journal=Neurology |volume=61 |issue= 4 |pages= 580–1 |year= 2004 |pmid= 12939451 |doi= 10.1212/01.wnl.0000078189.73611.df|display-authors=etal}}
* {{cite journal | vauthors = D'Amico A, Tessa A, Sabino A, Bertini E, Santorelli FM, Servidei S | title = Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene | journal = Neurology | volume = 62 | issue = 11 | pages = 2138–9 | date = June 2004 | pmid = 15184642 | doi = 10.1212/01.wnl.0000127698.88895.85 | s2cid = 35424868 }}
*{{cite journal | vauthors=Zhu PP, Patterson A, Lavoie B |title=Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin. |journal=J. Biol. Chem. |volume=278 |issue= 49 |pages= 49063–71 |year= 2004 |pmid= 14506257 |doi= 10.1074/jbc.M306702200 |display-authors=etal}}
* {{cite journal | vauthors = Hedera P, Fenichel GM, Blair M, Haines JL | title = Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia | journal = Archives of Neurology | volume = 61 | issue = 10 | pages = 1600–3 | date = October 2004 | pmid = 15477516 | doi = 10.1001/archneur.61.10.1600 | doi-access = }}
*{{cite journal | vauthors=Wilkinson PA, Hart PE, Patel H |title=SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia. |journal=J. Neurol. Sci. |volume=216 |issue= 1 |pages= 43–5 |year= 2004 |pmid= 14607301 |doi=10.1016/S0022-510X(03)00210-7 |display-authors=etal}}
* {{cite journal | vauthors = Abel A, Fonknechten N, Hofer A, Dürr A, Cruaud C, Voit T, Weissenbach J, Brice A, Klimpe S, Auburger G, Hazan J | display-authors = 6 | title = Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A | journal = Neurogenetics | volume = 5 | issue = 4 | pages = 239–43 | date = December 2004 | pmid = 15517445 | doi = 10.1007/s10048-004-0191-2 | s2cid = 21989057 }}
*{{cite journal | vauthors=Sauter SM, Engel W, Neumann LM |title=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. |journal=Hum. Mutat. |volume=23 |issue= 1 |pages= 98 |year= 2004 |pmid= 14695538 |doi= 10.1002/humu.9205 |display-authors=etal}}
*{{cite journal | vauthors=D'Amico A, Tessa A, Sabino A |title=Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene. |journal=Neurology |volume=62 |issue= 11 |pages= 2138–9 |year= 2004 |pmid= 15184642 |doi= 10.1212/01.wnl.0000127698.88895.85|display-authors=etal}}
*{{cite journal | vauthors=Hedera P, Fenichel GM, Blair M, Haines JL |title=Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia. |journal=Arch. Neurol. |volume=61 |issue= 10 |pages= 1600–3 |year= 2004 |pmid= 15477516 |doi= 10.1001/archneur.61.10.1600 }}
*{{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
*{{cite journal | vauthors=Abel A, Fonknechten N, Hofer A |title=Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. |journal=Neurogenetics |volume=5 |issue= 4 |pages= 239–43 |year= 2005 |pmid= 15517445 |doi= 10.1007/s10048-004-0191-2 |display-authors=etal}}
}}
{{refend}}
{{refend}}

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{{gene-14-stub}}
{{gene-14-stub}}



[[Category:Genes on human chromosome 14]]

Latest revision as of 17:12, 17 August 2023

Atlastin-1, is a protein that in humans is encoded by the ATL1 gene.[1][2][3][4]

References[edit]

  1. ^ 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. S2CID 3154239.
  2. ^ 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. S2CID 28541700.
  3. ^ 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.
  4. ^ "Entrez Gene: SPG3A spastic paraplegia 3A (autosomal dominant)".

External links[edit]

Further reading[edit]