Atlastin-1

ATL1
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
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3Q5D, 3Q5E, 3QNU, 3QOF, 4IDN, 4IDO, 4IDP, 4IDQ
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; ; lateral nuclear group of thalamus; ; spinal ganglia; ; Brodmann area 46; ; pars compacta; ; pons; ; superior frontal gyrus; ; entorhinal cortex;
	Top expressed in
	dorsomedial hypothalamic nucleus; ; piriform cortex; ; primary motor cortex; ; ventral tegmental area; ; anterior amygdaloid area; ; ventromedial nucleus; ; prefrontal cortex; ; lateral hypothalamus; ; cingulate gyrus; ; subiculum;
	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

Atlastin-1, is a protein that in humans is encoded by the ATL1 gene.^[5]^[6]^[7]^[8]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000198513 – Ensembl, May 2017
1 2 3 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. S2CID 3154239.
↑ 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.
↑ 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.

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. S2CID 3154239.
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. S2CID 28464279.
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. S2CID 219222058.
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. S2CID 42354115.
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. S2CID 46209903.
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. S2CID 35424868.
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. S2CID 21989057.

This article on a gene on human chromosome 14 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000198513 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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] 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.

[pmid8252041-6] 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.

[pmid7825576-7] 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-8] "Entrez Gene: SPG3A spastic paraplegia 3A (autosomal dominant)".

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Atlastin-1

References

External links

Further reading