Property Summary

NCBI Gene PubMed Count 72
Grant Count 38
R01 Count 22
Funding $7,577,979.5
PubMed Score 131.92
PubTator Score 104.94

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
astrocytoma -2.000 0.000
glioblastoma multiforme -2.800 0.000
oligodendroglioma -2.100 0.000
ependymoma -3.800 0.000
atypical teratoid/rhabdoid tumor -2.900 0.000
medulloblastoma, large-cell 1.100 0.000
adult high grade glioma -2.000 0.002
group 4 medulloblastoma 1.600 0.011
pilocytic astrocytoma -3.100 0.000
subependymal giant cell astrocytoma -3.377 0.025
lung carcinoma 2.400 0.000
Pick disease -2.300 0.017
pituitary cancer 2.700 0.000

Gene RIF (48)

PMID Text
26453127 study confirms that the specific c.2452G>A mutation in the ATP1A3 gene is associated with the CAPOS syndrome in pedigrees of different ethnic backgrounds; also the first report showing the co-occurrence of hemiplegic migraine and CAPOS syndrome in a patient with ATP1A3 mutations
26410222 Our results, demonstrate a highly variable clinical phenotype in patients with alternating hemiplegia of childhood that correlates with certain mutations and possibly clusters within the ATPase Na+/K+ transporting subunit alpha 3 gene.
26323479 interactions of alpha3-NKA with extracellular alpha-syn assemblies reduce its pumping activity as its mutations in RDP/AHC.
26297560 Alternating hemiplegia of childhood is a rare disorder caused by de novo mutations in the ATP1A3 gene, expressed in neurons and cardiomyocytes.
26224839 The amylospheroids target is neuron-specific Na(+)/K(+)-ATPase alpha3 subunit (NAKalpha3).
26003227 Common variants of ATP1A3 were associated with susceptibility to generalized epilepsy in a Chinese population.
25996915 This study further expands the number and spectrum of ATP1A3 mutations associated with Alternating Hemiplegia of Childhood and confirms a more deleterious effect of the E815K mutation on selected neurologic outcomes.
25994790 Report tumor cell sensitivity to cardiac glycosides depends on pattern of expression of alpha1-, alpha2-, or alpha3-isoforms of Na-K-ATPase.
25656163 The rsults of this study indicate the mutations cause severe phenotypesd of ATP1A3-related disorder spectrum that include catastrophic early life epilepsy, episodic apnea, and postnatal microcephaly.
25447930 Review of the phenotypic spectrum of ATP1A3-related neurological disorders in children
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AA Sequence

MGDKKDDKDSPKKNKGKERRDLDDLKKEVAMTEHKMSVEEVCRKYNTDCVQGLTHSKAQEILARDGPNAL      1 - 70
TPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAGTEDDPSGDNLYLGIVLAAVVIITGCFSYYQ     71 - 140
EAKSSKIMESFKNMVPQQALVIREGEKMQVNAEEVVVGDLVEIKGGDRVPADLRIISAHGCKVDNSSLTG    141 - 210
ESEPQTRSPDCTHDNPLETRNITFFSTNCVEGTARGVVVATGDRTVMGRIATLASGLEVGKTPIAIEIEH    211 - 280
FIQLITGVAVFLGVSFFILSLILGYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKN    281 - 350
LEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGTSFDKSSHTWVALSHIAGLCNR    351 - 420
AVFKGGQDNIPVLKRDVAGDASESALLKCIELSSGSVKLMRERNKKVAEIPFNSTNKYQLSIHETEDPND    421 - 490
NRYLLVMKGAPERILDRCSTILLQGKEQPLDEEMKEAFQNAYLELGGLGERVLGFCHYYLPEEQFPKGFA    491 - 560
FDCDDVNFTTDNLCFVGLMSMIDPPRAAVPDAVGKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNET    561 - 630
VEDIAARLNIPVSQVNPRDAKACVIHGTDLKDFTSEQIDEILQNHTEIVFARTSPQQKLIIVEGCQRQGA    631 - 700
IVAVTGDGVNDSPALKKADIGVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTL    701 - 770
TSNIPEITPFLLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDIMKRQPRNPRTDKLVNERLI    771 - 840
SMAYGQIGMIQALGGFFSYFVILAENGFLPGNLVGIRLNWDDRTVNDLEDSYGQQWTYEQRKVVEFTCHT    841 - 910
AFFVSIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSYCPGMDVALRMYPLKPSWWFC    911 - 980
AFPYSFLIFVYDEIRKLILRRNPGGWVEKETYY                                         981 - 1013
//

Text Mined References (74)

PMID Year Title
26410222 2015 Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
26323479 2015 ?-synuclein assemblies sequester neuronal ?3-Na+/K+-ATPase and impair Na+ gradient.
26297560 2015 Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
26224839 2015 Na, K-ATPase ?3 is a death target of Alzheimer patient amyloid-? assembly.
26003227 2015 Common variants of ATP1A3 but not ATP1A2 are associated with Chinese genetic generalized epilepsies.
25996915 2015 Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
25994790 2015 Cardiac glycosides induced toxicity in human cells expressing ?1-, ?2-, or ?3-isoforms of Na-K-ATPase.
25656163 2015 Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
25447930 2015 The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.
25433904 2015 Altered glutamate protein co-expression network topology linked to spine loss in the auditory cortex of schizophrenia.
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