Property Summary

NCBI Gene PubMed Count 74
Grant Count 49
R01 Count 20
Funding $7,637,589.15
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 0.002
ependymoma -2.400 0.000
oligodendroglioma -1.600 0.000
glioblastoma -2.700 0.000
group 4 medulloblastoma -1.700 0.000
atypical teratoid / rhabdoid tumor -3.500 0.000
medulloblastoma, large-cell -2.600 0.000
primitive neuroectodermal tumor -1.500 0.000
pediatric high grade glioma -2.400 0.000
pilocytic astrocytoma -1.300 0.000
Breast cancer -1.200 0.000
ovarian cancer -2.200 0.000
psoriasis -1.100 0.000

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.
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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
//

Publication (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.
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