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Atlastin 1 (ATL1)

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SPG3A; GBP3; AD-FSP; FSP1; SPG3; Atlastin GTPase 1; Spastic paraplegia 3 protein A; Guanine nucleotide-binding protein 3; Brain-specific GTP-binding protein

Atlastin 1 (ATL1)
CCC E300
HGNC 11231
MGI 1921241
PubMed 16537571
RGD 1359232
UniProt Q8WXF7
Wiki Atlastin
Atlastin 1 is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4.
This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene.The gene was found to have no homology to genes that cause other forms of hereditary spastic paraplegia. It does show significant homology to guanylate binding protein-1 (GBP1), a member of the dynamin family of large GTPases.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Atlastin 1 (ATL1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Atlastin 1 (ATL1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Atlastin 1 (ATL1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Atlastin 1 (ATL1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Atlastin 1 (ATL1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Atlastin 1 (ATL1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Atlastin 1 (ATL1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Atlastin 1 (ATL1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Atlastin 1 (ATL1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Atlastin 1 (ATL1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Atlastin 1 (ATL1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Atlastin 1 (ATL1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Atlastin 1 (ATL1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Atlastin 1 (ATL1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Atlastin 1 (ATL1) ELISA Kit Customized Service Offer
  1. "Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia."Nat. Genet. 29:326-331(2001) [PubMed] [Europe PMC] [Abstract]
  2. "A novel GTP-binding protein hGBP3 interacts with NIK/HGK."FEBS Lett. 530:233-238(2002) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  5. "The DNA sequence and analysis of human chromosome 14." Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin."J. Biol. Chem. 278:49063-49071(2003) [PubMed] [Europe PMC] [Abstract]
  8. "Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners."Hum. Mol. Genet. 15:307-318(2006) [PubMed] [Europe PMC] [Abstract]
  9. "Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance."Proc. Natl. Acad. Sci. U.S.A. 103:10666-10671(2006) [PubMed] [Europe PMC] [Abstract]
  10. "Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis."Mol. Cell. Neurosci. 35:1-13(2007) [PubMed] [Europe PMC] [Abstract]
  11. "Atlastin GTPases are required for Golgi apparatus and ER morphogenesis."Hum. Mol. Genet. 17:1591-1604(2008) [PubMed] [Europe PMC] [Abstract]
  12. "Phosphoproteome of resting human platelets."J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract]
  13. "A class of dynamin-like GTPases involved in the generation of the tubular ER network."Cell 138:549-561(2009) [PubMed] [Europe PMC] [Abstract]
  14. "Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network."J. Clin. Invest. 120:1097-1110(2010) [PubMed] [Europe PMC] [Abstract]
  15. "Structural basis for the nucleotide-dependent dimerization of the large G protein atlastin-1/SPG3A."Proc. Natl. Acad. Sci. U.S.A. 108:2216-2221(2011) [PubMed] [Europe PMC] [Abstract]
  16. "Structures of the atlastin GTPase provide insight into homotypic fusion of endoplasmic reticulum membranes."Proc. Natl. Acad. Sci. U.S.A. 108:3976-3981(2011) [PubMed] [Europe PMC] [Abstract]
  17. "Structural basis for conformational switching and GTP loading of the large G protein atlastin."EMBO J. 32:369-384(2013) [PubMed] [Europe PMC] [Abstract]
  18. "Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia."Ann. Neurol. 51:794-795(2002) [PubMed] [Europe PMC] [Abstract]
  19. "Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation."Neurology 61:580-581(2003) [PubMed] [Europe PMC] [Abstract]
  20. "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. 23:98-98(2004) [PubMed] [Europe PMC] [Abstract]
  21. "Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene."Neurology 62:2138-2139(2004) [PubMed] [Europe PMC] [Abstract]
  22. "De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy."Arch. Neurol. 63:445-447(2006) [PubMed] [Europe PMC] [Abstract]
  23. "Characterization of a novel SPG3A deletion in a French-Canadian family."Ann. Neurol. 61:599-603(2007) [PubMed] [Europe PMC] [Abstract]
  24. "Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia."BMC Neurol. 10:89-89(2010) [PubMed] [Europe PMC] [Abstract]
  25. "Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I."Am. J. Hum. Genet. 88:99-105(2011) [PubMed] [Europe PMC] [Abstract]
  26. "Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia."Clin. Genet. 79:523-530(2011) [PubMed] [Europe PMC] [Abstract]
  27. "Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation."J. Neurol. 258:1361-1363(2011) [PubMed] [Europe PMC] [Abstract]
  28. "Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia."Hum. Mutat. 34:860-863(2013) [PubMed] [Europe PMC] [Abstract]
  29. "Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation."Eur. J. Hum. Genet. 22:1180-1184(2014) [PubMed] [Europe PMC] [Abstract]