Reviewed January 2008
What is the official name of the ATL1 gene?
The official name of this gene is “atlastin GTPase 1.”
ATL1 is the gene's official symbol. The ATL1 gene is also known by other names, listed below.
What is the normal function of the ATL1 gene?
The ATL1 gene provides instructions for producing a protein called atlastin-1. Atlastin-1 is found throughout the body, particularly in the brain. In cells, this protein is found in structures known as the endoplasmic reticulum and the Golgi apparatus, which are involved in the movement of proteins and cell components within the cell. Atlastin-1 likely plays a role in the transportation of cell components and in the formation of the endoplasmic reticulum and Golgi apparatus, each of which is involved in the growth of axons (specialized extensions of nerve cells that transmit nerve impulses). Atlastin-1 is necessary for the formation and growth of axons; however, its precise function remains unclear.
How are changes in the ATL1 gene related to health conditions?
- spastic paraplegia type 3A - caused by mutations in the ATL1 gene
More than 30 mutations in the ATL1 gene have been identified in people with spastic paraplegia type 3A. Most of these mutations change one protein building block (amino acid) in the atlastin-1 protein. It remains unclear how mutations in the ATL1 gene lead to the signs and symptoms of spastic paraplegia type 3A. Researchers suggest that these mutations disrupt the structure of atlastin-1, which interferes with the protein's role in the formation and growth of axons.
Where is the ATL1 gene located?
Cytogenetic Location: 14q22.1
Molecular Location on chromosome 14: base pairs 50,999,799 to 51,099,785
The ATL1 gene is located on the long (q) arm of chromosome 14 at position 22.1.
More precisely, the ATL1 gene is located from base pair 50,999,799 to base pair 51,099,785 on chromosome 14.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about ATL1?
You and your healthcare professional may find the following resources about ATL1 helpful.
Gene Reviews - Clinical summary
- Gene Review: Hereditary Spastic Paraplegia (http://www.ncbi.nlm.nih.gov/books/NBK1509/)
- Gene Review: Spastic Paraplegia 3A (http://www.ncbi.nlm.nih.gov/books/NBK45978/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for ATL1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=51062%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((SPG3A%5BTIAB%5D)%20OR%20(atlastin%5BTIAB%5D)%20OR%20(ATL1%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/606439)
Research Resources - Tools for researchers
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=51062)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=11231)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/51062)
What other names do people use for the ATL1 gene or gene products?
- guanylate-binding protein 3
- spastic paraplegia 3A (autosomal dominant)
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding ATL1?
amino acid ;
autosomal dominant ;
endoplasmic reticulum ;
Golgi apparatus ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Dürr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, Fontaine B, Rossi A, Gil R, Rousselle C, Ruberg M, Stevanin G, Brice A. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol. 2004 Dec;61(12):1867-72. (http://www.ncbi.nlm.nih.gov/pubmed/15596607?dopt=Abstract)
- Ivanova N, Claeys KG, Deconinck T, Litvinenko I, Jordanova A, Auer-Grumbach M, Haberlova J, Löfgren A, Smeyers G, Nelis E, Mercelis R, Plecko B, Priller J, Zámecník J, Ceulemans B, Erichsen AK, Björck E, Nicholson G, Sereda MW, Seeman P, Kremensky I, Mitev V, De Jonghe P. Hereditary spastic paraplegia 3A associated with axonal neuropathy. Arch Neurol. 2007 May;64(5):706-13. (http://www.ncbi.nlm.nih.gov/pubmed/17502470?dopt=Abstract)
- Meijer IA, Dion P, Laurent S, Dupré N, Brais B, Levert A, Puymirat J, Rioux MF, Sylvain M, Zhu PP, Soderblom C, Stadler J, Blackstone C, Rouleau GA. Characterization of a novel SPG3A deletion in a French-Canadian family. Ann Neurol. 2007 Jun;61(6):599-603. (http://www.ncbi.nlm.nih.gov/pubmed/17427918?dopt=Abstract)
- Namekawa M, Muriel MP, Janer A, Latouche M, Dauphin A, Debeir T, Martin E, Duyckaerts C, Prigent A, Depienne C, Sittler A, Brice A, Ruberg M. Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis. Mol Cell Neurosci. 2007 May;35(1):1-13. Epub 2007 Jan 26. (http://www.ncbi.nlm.nih.gov/pubmed/17321752?dopt=Abstract)
- Namekawa M, Ribai P, Nelson I, Forlani S, Fellmann F, Goizet C, Depienne C, Stevanin G, Ruberg M, Dürr A, Brice A. SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology. 2006 Jan 10;66(1):112-4. (http://www.ncbi.nlm.nih.gov/pubmed/16401858?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/51062)
- OMIM: ATLASTIN GTPase 1 (http://omim.org/entry/606439)
- Sanderson CM, Connell JW, Edwards TL, Bright NA, Duley S, Thompson A, Luzio JP, Reid E. Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. Hum Mol Genet. 2006 Jan 15;15(2):307-18. Epub 2005 Dec 8. (http://www.ncbi.nlm.nih.gov/pubmed/16339213?dopt=Abstract)
- Zhu PP, Patterson A, Lavoie B, Stadler J, Shoeb M, Patel R, Blackstone C. Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin. J Biol Chem. 2003 Dec 5;278(49):49063-71. Epub 2003 Sep 23. (http://www.ncbi.nlm.nih.gov/pubmed/14506257?dopt=Abstract)
- Zhu PP, Soderblom C, Tao-Cheng JH, Stadler J, Blackstone C. SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development. Hum Mol Genet. 2006 Apr 15;15(8):1343-53. Epub 2006 Mar 14. (http://www.ncbi.nlm.nih.gov/pubmed/16537571?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.