Property Summary

NCBI Gene PubMed Count 74
PubMed Score 116.25
PubTator Score 135.62

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
astrocytic glioma -2.000 2.1e-03
ependymoma -2.400 8.7e-17
oligodendroglioma -1.600 4.6e-19
glioblastoma -2.700 4.1e-06
group 4 medulloblastoma -1.700 3.8e-06
atypical teratoid / rhabdoid tumor -3.500 1.3e-06
medulloblastoma, large-cell -2.600 1.0e-06
primitive neuroectodermal tumor -1.500 2.7e-04
pediatric high grade glioma -2.400 7.4e-08
pilocytic astrocytoma -1.300 1.4e-06
Breast cancer -1.200 4.5e-05
ovarian cancer -2.200 7.3e-10
psoriasis -1.100 3.2e-91

Gene RIF (57)

PMID Text
26600529 We identified two novel mutations and two previously reported mutations in SPAST and ATL1, respectively. The family with the ATL1 c.1204T>G mutation exhibited male-lethality, female infancy-onset, and pseudo- X-linked dominant transmission
26208798 Novel splicing pathogenic variants were identified in ATL1 genes of Korean patients with hereditary spastic paraplegia.
25773277 These results suggest that the three ATLs have different capacities to mediate endoplasmic reticulum fusion, with ATL1 being the strongest and ATL3 being the weakest.
25761634 a deficit in the membrane fusion activity of atlastin1 may be a key contributor, but is not required, for hereditary spastic paraplegia causation.
25555915 These data suggest that the C-terminal tail of Atlastin locally destabilizes bilayers to facilitate membrane fusion.
25454648 Data showed 3 micro-mutations and 2 exon deletions in SPAST gene and 2 micro-mutations in ATL1 gene in this cohort of Chinese patients with spastic paraplegia.
25407413 purified and reconstituted human ATL1 exhibited no in vitro fusion activity. When the cytosolic segment of human ATL1 was connected to the transmembrane (TM) region and C-terminal tail (CT) of Drosophila ATL
24473461 Our combined findings show that homozygosity for the ATL1 missense variant remains the only plausible cause of Hereditary spastic paraplegias, whereas heterozygous carriers are asymptomatic.
23969831 The hydrophobic domains of protrudin likely adopt hairpin topologies, similar to those in the atlastins, as well as the ER-shaping reticulons and REEPs. Protrudin interacts with these protein families through the hydrophobic segments.
23684613 The atlastin-mediated fusion of ER membranes is important for LD size regulation.
23334294 The cytoplasmic domain of atlastin acts as a tether and homotypic interactions are timed by GTP binding and hydrolysis.
23233086 frontal glucose hypometabolism was associated with frontal cognitive impairment indicating that widespread neuropathology associated with mutations in the SPG3A gene
23108492 Three novel ATL1 mutations are identified in a cohort of patients with upper motor neuron syndrome.
23079343 these results further supports the role of the atlastin-1 of BMP signaling cascade in axonal maintenance and axonal degeneration, which is seen in various types of hereditary spastic paraplegia.
22340599 The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy.
21930898 increasing the distance of atlastin complex formation from the membrane inhibits fusion, suggesting that this distance is crucial for atlastin to promote fusion
21368113 experiments also show that membrane fusion is facilitated by the C-terminal cytosolic tails following the two transmembrane segments. Finally, our results show that mutations in ATL1 causing hereditary spastic paraplegia compromise homotypic ER fusion
21321493 We identified a novel mutation, c.1040T>C (p. M347T), in a family with axonal neuropathy in addition to spastic paraplegia.
21220294 a model for nucleotide-dependent regulation of atlastin with implications for membrane fusion. This mechanism is affected in several mutants associated with HSP, providing insights into disease pathogenesis.
21194679 This study highlights an unexpected major role for atlastin-1 in the function of sensory neurons and identifies hereditary sensory neuropathy type I and Spastic paraplegia 3, autosomal dominant as allelic disorders.
20932283 In a large cohort of Spanish patients with spastic paraplegia, SPAST and ATL1 mutations were found in 15% of the cases
20932283 Observational study of gene-disease association. (HuGE Navigator)
20718791 previously unreported autosomal dominant mutations in the atlastin gene in hereditary spastic paraplegia
20718791 Observational study of gene-disease association. (HuGE Navigator)
20200447 Hereditary spastic paraplegias (HSP) proteins atlastin-1, spastin, and REEP1 interact within the tubularER membrane in corticospinal neurons to coordinate ER shaping and microtubule dynamics.
20198315 Observational study of gene-disease association. (HuGE Navigator)
19851296 Observational study of gene-disease association. (HuGE Navigator)
19768483 a new mutation in SPG3A in Italian family manifesting a complex phenotype characterized by cerebellar involvement and amyotrophic lateral sclerosis-like syndrome
19735987 Data report a new heterozygous S398F mutation in exon 12 of the SPG3A gene causing a very early-onset spastic paraplegia in association with motor axonal neuropathy resembling diplegic cerebral palsy.
19730024 study describes two patients with Silver phenotype including one with a novel SPG4 (Spastin) mutation and a second with a known SPG 4 mutation (previously unassociated with this phenotype) and a concomitant previously unreported mutation in SPG3A
19724895 Observational study of gene-disease association. (HuGE Navigator)
19652243 Using DNA mutation analysis, the authors identified an SPG3A missense mutation (p.R239C) in a Chinese family where three members have early-onset pure spastic paraplegia.
19573020 Atlastin-1 might be implicated in membrane tubulation and vesiculation and may participate in the formation as well as the function of the endoplasmic reticulum.
19459885 Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype
19423133 In hereditary spastic paraplegia, one new disease causing sequence variant and one non pathogenic non synonymous variant were found in SPG3A.
18664244 in dominant spastic paraplegia families, mutation analysis was performed for SPG4 & SPG3A genes; identified 10 novel mutations: one in SPG3A & 9 in SPG4 genes; most of the novel mutations were frameshift or nonsense (80%)
18644145 Observational study of gene-disease association. (HuGE Navigator)
18446315 We describe a severe case of herediatry spastic paraplegia, extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype.
17531128 identification of one novel and one known SPG3A mutation in screening 20 families and 23 sporadic cases of hereditary spastic paraplegia in Chinese Han population
17502470 Mutations in SPG3A represent an important cause of patients in the overall hereditary spastic paraplegia population.
17427918 In a large SPG3A screen of 70 hereditary spastic paraplegia subjects, a novel in-frame deletion, p.del436N, was identified which affects neither the guanosine triphosphatase activity of atlastin nor interactions between atlastin and spastin.
17420921 Observational study of gene-disease association. (HuGE Navigator)
17380240 This study identified Y469C mutation in SPG3A in Japanese family with hereditary spastic paraplegia.
17321752 Atlastin plays a role in vesicle trafficking in the ER/Golgi interface
16815977 Interaction between atlastin and spastin may define a cellular biological pathway that is important in axon maintenance, the failure of which may be pathogenetically relevant.
16533974 This study identified a novel SPG3A mutation (L157W) in the proband and her affected child.
16401858 Seven families with six different SPG3A mutations were identified among 106 with autosomal dominant hereditary spastic paraplegia (HSP).
16339213 Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.
15742100 This study report a new atlastin(R495W) mutation causing spastic paraplegia in association with axonal neuropathy in an Italian family.
15596607 All mutations of atlastin1 in young-onset autosomal dominant spastic paraplegia patients in France were found in exons 7, 8, 12, and 13. These exons should be given priority when performing molecular diagnoses for SPG3A.
15517445 Three novel mutations were found in exons 4, 9, and 12 of the atlastin gene and the common R239C mutation located in exon 7 was confirmed in a 7th family of European origin
15477516 This paper report a novel mutation in the SPG3A gene in an African American family with an infantile onset of autosomal dominant hereditary spastic paraplegia.
15184642 In a family with autosomal dominant spastic paraplegia, heterozygous substitution in exon 12 exchanges arginine for tryptophan at position 415 (R415W) abolishing an MSP I recognition site (CC'GG).
14607301 The R239C mutation was found to co-segregate with autosomal dominant hereditary spastic paraplegia (ADHSP) in one English ADHSP family confirming a widespread prevalence for this commonly occurring mutation
14506257 identification as a multimeric integral membrane GTPase that may be involved in Golgi membrane dynamics or vesicle trafficking
12387898 interaction with NIK/HGK
12112092 This study reports a novel mutation in the SPG3A gene in a family with spastic paraplegia, further confirming that mutations in this gene cause autosomal dominant hereditary spastic paraplegia.

AA Sequence

MAKNRRDRNSWGGFSEKTYEWSSEEEEPVKKAGPVQVLIVKDDHSFELDETALNRILLSEAVRDKEVVAV      1 - 70
SVAGAFRKGKSFLMDFMLRYMYNQESVDWVGDYNEPLTGFSWRGGSERETTGIQIWSEIFLINKPDGKKV     71 - 140
AVLLMDTQGTFDSQSTLRDSATVFALSTMISSIQVYNLSQNVQEDDLQHLQLFTEYGRLAMEETFLKPFQ    141 - 210
SLIFLVRDWSFPYEFSYGADGGAKFLEKRLKVSGNQHEELQNVRKHIHSCFTNISCFLLPHPGLKVATNP    211 - 280
NFDGKLKEIDDEFIKNLKILIPWLLSPESLDIKEINGNKITCRGLVEYFKAYIKIYQGEELPHPKSMLQA    281 - 350
TAEANNLAAVATAKDTYNKKMEEICGGDKPFLAPNDLQTKHLQLKEESVKLFRGVKKMGGEEFSRRYLQQ    351 - 420
LESEIDELYIQYIKHNDSKNIFHAARTPATLFVVIFITYVIAGVTGFIGLDIIASLCNMIMGLTLITLCT    421 - 490
WAYIRYSGEYRELGAVIDQVAAALWDQGSTNEALYKLYSAAATHRHLYHQAFPTPKSESTEQSEKKKM      491 - 558
//

Text Mined References (80)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26600529 2015 Mutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation.
26208798 2015 Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.
25773277 2015 Human atlastin GTPases mediate differentiated fusion of endoplasmic reticulum membranes.
25761634 2015 ER network formation and membrane fusion by atlastin1/SPG3A disease variants.
25751282 2015 Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.
25555915 2015 The Atlastin C-terminal tail is an amphipathic helix that perturbs the bilayer structure during endoplasmic reticulum homotypic fusion.
25454648 2014 Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia.
25407413 2015 Comparison of human and Drosophila atlastin GTPases.
24925725 2014 Lupus nephritis susceptibility loci in women with systemic lupus erythematosus.
24473461 2014 Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.
24347629 2014 Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
23969831 2013 Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation.
23684613 2013 A conserved role for atlastin GTPases in regulating lipid droplet size.
23483706 2013 Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.
23334294 2013 Structural basis for conformational switching and GTP loading of the large G protein atlastin.
23233086 2013 SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism.
23108492 2013 ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes.
23079343 2013 Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking.
22340599 2012 The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features.
21930898 2011 GTP-dependent packing of a three-helix bundle is required for atlastin-mediated fusion.
21368113 2011 Structures of the atlastin GTPase provide insight into homotypic fusion of endoplasmic reticulum membranes.
21336785 2011 Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation.
21321493 2011 Hereditary spastic paraplegia associated with axonal neuropathy: a novel mutation of SPG3A in a large family.
21220294 2011 Structural basis for the nucleotide-dependent dimerization of the large G protein atlastin-1/SPG3A.
21194679 2011 Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
20932283 2010 Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
20718791 2011 Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
20200447 2010 Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.
20198315 2010 Association of genetic variants with hemorrhagic stroke in Japanese individuals.
20125193 2010 Common genetic variation and performance on standardized cognitive tests.
19851296 2010 Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.
19768483 2010 Complex phenotype in an Italian family with a novel mutation in SPG3A.
19735987 2010 Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation.
19730024 2009 Novel SPG3A and SPG4 mutations in two patients with Silver syndrome.
19724895 2009 Association of gene polymorphisms with chronic kidney disease in Japanese individuals.
19665976 2009 A class of dynamin-like GTPases involved in the generation of the tubular ER network.
19652243 2009 Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family.
19573020 2009 Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum.
19459885 2009 Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype.
19423133 2009 Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.
18664244 2009 Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.
18644145 2008 Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).
18446315 2008 Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype.
18270207 2008 Atlastin GTPases are required for Golgi apparatus and ER morphogenesis.
18088087 2008 Phosphoproteome of resting human platelets.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17531128 2007 A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family.
17502470 2007 Hereditary spastic paraplegia 3A associated with axonal neuropathy.
17427918 2007 Characterization of a novel SPG3A deletion in a French-Canadian family.
17420921 2007 The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome.
17380240 2007 A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia.
17321752 2007 Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis.
16815977 2006 Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance.
16533974 2006 De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy.
16401858 2006 SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16339213 2006 Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.
15742100 2005 The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.
15596607 2004 Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.
15517445 2004 Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15477516 2004 Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia.
15184642 2004 Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14695538 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.
14607301 2003 SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia.
14506257 2003 Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin.
12939451 2003 Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation.
12508121 2003 The DNA sequence and analysis of human chromosome 14.
12499504 2002 SPG3A: An additional family carrying a new atlastin mutation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12387898 2002 A novel GTP-binding protein hGBP3 interacts with NIK/HGK.
12112092 2002 Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia.
11685207 2001 Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.
9110174 1997 Large-scale concatenation cDNA sequencing.
8619474 1996 A "double adaptor" method for improved shotgun library construction.
8252041 1993 Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
7825576 1995 Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity.