Atlastin-1: Difference between revisions

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{{Underlinked|date=December 2013}}
{{Underlinked|date=December 2013}}
{{Infobox_gene}}
{{Infobox_gene}}
'''Atlastin''', or '''Atlastin-1''', is a [[protein]] that in humans is encoded by the ''ATL1'' [[gene]].<ref name="pmid8252041">{{cite journal | author = 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 | author = 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 = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51062| accessdate = }}</ref>
'''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 = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51062| accessdate = }}</ref>


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{{PBB_Further_reading
{{PBB_Further_reading
| citations =
| citations =
*{{cite journal | author=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=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 | author=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=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 | author=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=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 | author=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=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 | author=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=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 | author=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=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 | author=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=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 | author=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=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 | author=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=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 | author=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=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 | author=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=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 | author=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=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 | author=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=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 | author=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=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 | author=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=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 | author=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=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 | author=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=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 | author=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}}
*{{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}}
{{Uncategorized stub|date=May 2016}}

Revision as of 17:34, 22 May 2016

ATL1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesATL1, AD-FSP, FSP1, GBP3, HSN1D, SPG3, SPG3A, atlastin1, Atlastin, atlastin GTPase 1
External IDsOMIM: 606439; MGI: 1921241; HomoloGene: 9302; GeneCards: ATL1; OMA:ATL1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

51062

73991

Ensembl

ENSG00000198513

ENSMUSG00000021066

UniProt

Q8WXF7

Q8BH66

RefSeq (mRNA)

NM_181598
NM_001127713
NM_015915

NM_178628

RefSeq (protein)

NP_001121185
NP_056999
NP_853629

NP_848743

Location (UCSC)Chr 14: 50.53 – 50.63 MbChr 12: 69.94 – 70.01 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Atlastin, or Atlastin-1, is a protein that in humans is encoded by the ATL1 gene.[5][6][7]

Template:PBB Summary

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000198513 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021066 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ "Entrez Gene: SPG3A spastic paraplegia 3A (autosomal dominant)".

External links

Further reading

Template:PBB Further reading

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