Atlastin-1: Difference between revisions

ATL1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3Q5D, 3Q5E, 3QNU, 3QOF, 4IDN, 4IDO, 4IDP, 4IDQ
Identifiers
Aliases	ATL1, AD-FSP, FSP1, GBP3, HSN1D, SPG3, SPG3A, atlastin1, Atlastin, atlastin GTPase 1
External IDs	OMIM: 606439; MGI: 1921241; HomoloGene: 9302; GeneCards: ATL1; OMA:ATL1 - orthologs
Gene location (Human)
Chr.	Chromosome 14 (human)
End	50,634,017 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	70,013,191 bp
RNA expression pattern
	Top expressed in
	middle temporal gyrus; ; Brodmann area 23; ; endothelial cell; ; spinal ganglia; ; Brodmann area 46; ; pons; ; superior frontal gyrus; ; entorhinal cortex; ; superior vestibular nucleus; ; prefrontal cortex;
	Top expressed in
	dorsomedial hypothalamic nucleus; ; piriform cortex; ; primary motor cortex; ; ventral tegmental area; ; ventromedial nucleus; ; prefrontal cortex; ; lateral hypothalamus; ; cingulate gyrus; ; subiculum; ; paraventricular nucleus of hypothalamus;
	More reference expression data
	n/a
Gene ontology
Molecular function	nucleotide binding; GTP binding; protein binding; hydrolase activity; GTPase activity; identical protein binding;
Cellular component	cytoplasm; integral component of membrane; axon; Golgi membrane; Golgi apparatus; cell projection; endoplasmic reticulum membrane; endoplasmic reticulum; membrane; Golgi cis cisterna; endoplasmic reticulum tubular network; endoplasmic reticulum tubular network membrane;
Biological process	protein homooligomerization; axonogenesis; endoplasmic reticulum organization; endoplasmic reticulum tubular network membrane organization; metabolism;
	Sources:Amigo / QuickGO
Orthologs
	51062
	73991
	ENSG00000198513
	ENSMUSG00000021066
	Q8WXF7
	Q8BH66
	NM_181598; NM_001127713; NM_015915
	NM_178628
	NP_001121185; NP_056999; NP_853629
	NP_848743
	Wikidata
View/Edit Human	View/Edit Mouse

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Revision as of 21:07, 19 March 2019

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

Template:PBB Summary

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000198513 – Ensembl, May 2017
^ ^a ^b ^c 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.
^ 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.
^ 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.
^ "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.

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.{{cite journal}}: CS1 maint: unflagged free DOI (link)
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.

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This article on a gene on human chromosome 14 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000198513 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[pmid8252041-5] 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.

[pmid7825576-6] 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.

[entrez-7] "Entrez Gene: SPG3A spastic paraplegia 3A (autosomal dominant)".

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@@ Line 19: / Line 19: @@
 ==Further reading==
 {{refbegin | 2}}
-{{PBB_Further_reading
-| 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=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}}
@@ Line 39: / Line 37: @@
 *{{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}}