Sequence of AT1A3_HUMAN

Na+/K+-exchanging ATPase

P13637

1013

111749

517003

Ovchinnikov Y.A.,Monastyrskaya G.S.,Broude N.E.,Ushkaryov Y.A.,Melkov A.M.,Smirnov Y.V.,Malyshev I.V.,Allikmets R.L.,Kostina M.B.,Dulubova I.E.,Kiyatkin N.I.,Grishin A.V.,Modyanov N.N.,Sverdlov E.D.

Family of human Na+, K+-ATPase genes. Structure of the gene for the catalytic subunit (alpha III-form) and its relationship with structural features of the protein.

FEBS Lett.

233

87-94

1988

517004

Sverdlov E.D.,Monastyrskaya G.S.,Broude N.E.,Ushkarev Y.A.,Melkov A.M.,Smirnov Y.V.,Malyshev I.V.,Allikmets R.L.,Kostina M.B.,Dulubova I.E.,Kiyatkin N.I.,Grishin A.V.,Modyanov N.N.,Ovchinnikov Y.A.

Family of human Na(+),K(+)-ATPase genes. Structure of the gene of isoform alpha-III.

Dokl. Akad. Nauk SSSR

297

1488-1494

1987

517005

Ota T.,Suzuki Y.,Nishikawa T.,Otsuki T.,Sugiyama T.,Irie R.,Wakamatsu A.,Hayashi K.,Sato H.,Nagai K.,Kimura K.,Makita H.,Sekine M.,Obayashi M.,Nishi T.,Shibahara T.,Tanaka T.,Ishii S.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.

Complete sequencing and characterization of 21,243 full-length human cDNAs.

Nat. Genet.

36

40-45

2004

517006

Grimwood J.,Gordon L.A.,Olsen A.S.,Terry A.,Schmutz J.,Lamerdin J.E.,Hellsten U.,Goodstein D.,Couronne O.,Tran-Gyamfi M.,Aerts A.,Altherr M.,Ashworth L.,Bajorek E.,Black S.,Branscomb E.,Caenepeel S.,Carrano A.V.,Caoile C.,Chan Y.M.,Christensen M.,Cleland C.A.,Copeland A.,Dalin E.,Dehal P.,Denys M.,Detter J.C.,Escobar J.,Flowers D.,Fotopulos D.,Garcia C.,Georgescu A.M.,Glavina T.,Gomez M.,Gonzales E.,Groza M.,Hammon N.,Hawkins T.,Haydu L.,Ho I.,Huang W.,Israni S.,Jett J.,Kadner K.,Kimball H.,Kobayashi A.,Larionov V.,Leem S.-H.,Lopez F.,Lou Y.,Lowry S.,Malfatti S.,Martinez D.,McCready P.M.,Medina C.,Morgan J.,Nelson K.,Nolan M.,Ovcharenko I.,Pitluck S.,Pollard M.,Popkie A.P.,Predki P.,Quan G.,Ramirez L.,Rash S.,Retterer J.,Rodriguez A.,Rogers S.,Salamov A.,Salazar A.,She X.,Smith D.,Slezak T.,Solovyev V.,Thayer N.,Tice H.,Tsai M.,Ustaszewska A.,Vo N.,Wagner M.,Wheeler J.,Wu K.,Xie G.,Yang J.,Dubchak I.,Furey T.S.,DeJong P.,Dickson M.,Gordon D.,Eichler E.E.,Pennacchio L.A.,Richardson P.,Stubbs L.,Rokhsar D.S.,Myers R.M.,Rubin E.M.,Lucas S.M.

The DNA sequence and biology of human chromosome 19.

Nature

428

529-535

2004

517007

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

Genome Res.

14

2121-2127

2004

517008

Ovchinnikov Y.A.,Monastyrskaya G.S.,Broude N.E.,Allikmets R.L.,Ushkaryov Y.A.,Melkov A.M.,Smirnov Y.V.,Malyshev I.V.,Dulubova I.E.,Petrukhin K.E.,Gryshin A.V.,Sverdlov V.E.,Kiyatkin N.I.,Kostina M.B.,Modyanov N.N.,Sverdlov E.D.

The family of human Na+,K+-ATPase genes. A partial nucleotide sequence related to the alpha-subunit.

FEBS Lett.

213

73-80

1987

517010

Sverdlov E.D.,Monastyrskaya G.S.,Broude N.E.,Ushkaryov Y.A.,Allikmets R.L.,Melkov A.M.,Smirnov Y.V.,Malyshev I.V.,Dulubova I.E.,Petrukhin K.E.,Gryshin A.V.,Kiyatkin N.I.,Kostina M.B.,Sverdlov V.E.,Modyanov N.N.,Ovchinnikov Y.A.

The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit.

FEBS Lett.

217

275-278

1987

517011

Hundal H.S.,Maxwell D.L.,Ahmed A.,Darakhshan F.,Mitsumoto Y.,Klip A.

Subcellular distribution and immunocytochemical localization of Na,K-ATPase subunit isoforms in human skeletal muscle.

Mol. Membr. Biol.

11

255-262

1994

517012

Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.

Initial characterization of the human central proteome.

BMC Syst. Biol.

5

17-17

2011

517013

de Carvalho Aguiar P.,Sweadner K.J.,Penniston J.T.,Zaremba J.,Liu L.,Caton M.,Linazasoro G.,Borg M.,Tijssen M.A.J.,Bressman S.B.,Dobyns W.B.,Brashear A.,Ozelius L.J.

Mutations in the Na(+)/K(+)-ATPase alpha-3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.

Neuron

43

169-175

2004

517014

Blanco-Arias P.,Einholm A.P.,Mamsa H.,Concheiro C.,Gutierrez-de-Teran H.,Romero J.,Toustrup-Jensen M.S.,Carracedo A.,Jen J.C.,Vilsen B.,Sobrido M.J.

A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism.

Hum. Mol. Genet.

18

2370-2377

2009

517015

Anselm I.A.,Sweadner K.J.,Gollamudi S.,Ozelius L.J.,Darras B.T.

Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.

Neurology

73

400-401

2009

517016

Rosewich H.,Thiele H.,Ohlenbusch A.,Maschke U.,Altmuller J.,Frommolt P.,Zirn B.,Ebinger F.,Siemes H.,Nurnberg P.,Brockmann K.,Gartner J.

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

Lancet Neurol.

11

764-773

2012

517017

Heinzen E.L.,Swoboda K.J.,Hitomi Y.,Gurrieri F.,Nicole S.,de Vries B.,Tiziano F.D.,Fontaine B.,Walley N.M.,Heavin S.,Panagiotakaki E.,Neri G.,Koelewijn S.,Kamphorst J.,Geilenkirchen M.,Pelzer N.,Laan L.,Haan J.,Ferrari M.,van den Maagdenberg A.M.,Zucca C.,Bassi M.T.,Franchini F.,Vavassori R.,Giannotta M.,Gobbi G.,Granata T.,Nardocci N.,De Grandis E.,Veneselli E.,Stagnaro M.,Vigevano F.,Oechsler C.,Arzimanoglou A.,Ninan M.,Neville B.,Ebinger F.,Fons C.,Campistol J.,Kemlink D.,Nevsimalova S.,Peeters-Scholte C.,Casaer P.,Casari G.,Sange G.,Spiel G.,Martinelli Boneschi F.,Schyns T.,Crawley F.,Poncelin D.,Fiori S.,Abiusi E.,Di Pietro L.,Sweney M.T.,Newcomb T.M.,Viollet L.,Huff C.,Jorde L.B.,Reyna S.P.,Murphy K.J.,Shianna K.V.,Gumbs C.E.,Little L.,Silver K.,Ptacek L.J.,Ferrari M.D.,Bye A.M.,Herkes G.K.,Whitelaw C.M.,Webb D.,Lynch B.J.,Uldall P.,King M.D.,Scheffer I.E.,Sisodiya S.M.,Mikati M.A.,Goldstein D.B.

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

Nat. Genet.

44

1030-1034

2012

517018

Ishii A.,Saito Y.,Mitsui J.,Ishiura H.,Yoshimura J.,Arai H.,Yamashita S.,Kimura S.,Oguni H.,Morishita S.,Tsuji S.,Sasaki M.,Hirose S.

Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.

PLoS ONE

8

0-0

2013

517019

Demos M.K.,van Karnebeek C.D.,Ross C.J.,Adam S.,Shen Y.,Zhan S.H.,Shyr C.,Horvath G.,Suri M.,Fryer A.,Jones S.J.,Friedman J.M.

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.

Orphanet J. Rare Dis.

9

15-15

2014

517020

Weigand K.M.,Messchaert M.,Swarts H.G.,Russel F.G.,Koenderink J.B.

Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding.

Biochim. Biophys. Acta

1842

1010-1016

2014

517021

Trump N.,McTague A.,Brittain H.,Papandreou A.,Meyer E.,Ngoh A.,Palmer R.,Morrogh D.,Boustred C.,Hurst J.A.,Jenkins L.,Kurian M.A.,Scott R.H.

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

J. Med. Genet.

53

310-317

2016

517022

Vetro A.,Nielsen H.N.,Holm R.,Hevner R.F.,Parrini E.,Powis Z.,Moeller R.S.,Bellan C.,Simonati A.,Lesca G.,Helbig K.L.,Palmer E.E.,Mei D.,Ballardini E.,Van Haeringen A.,Syrbe S.,Leuzzi V.,Cioni G.,Curry C.J.,Costain G.,Santucci M.,Chong K.,Mancini G.M.S.,Clayton-Smith J.,Bigoni S.,Scheffer I.E.,Dobyns W.B.,Vilsen B.,Guerrini R.

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

Brain

144

1435-1450

2021