Sodium/potassium-transporting ATPase subunit alpha-3
Details
- Name
- Sodium/potassium-transporting ATPase subunit alpha-3
- Synonyms
- 3.6.3.9
- Na(+)/K(+) ATPase alpha-3 subunit
- Na(+)/K(+) ATPase alpha(III) subunit
- Sodium pump subunit alpha-3
- Gene Name
- ATP1A3
- Organism
- Humans
- Amino acid sequence
>lcl|BSEQ0008814|Sodium/potassium-transporting ATPase subunit alpha-3 MGDKKDDKDSPKKNKGKERRDLDDLKKEVAMTEHKMSVEEVCRKYNTDCVQGLTHSKAQE ILARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAGTEDDPSGDNL YLGIVLAAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIREGEKMQVNAEEVVVGDL VEIKGGDRVPADLRIISAHGCKVDNSSLTGESEPQTRSPDCTHDNPLETRNITFFSTNCV EGTARGVVVATGDRTVMGRIATLASGLEVGKTPIAIEIEHFIQLITGVAVFLGVSFFILS LILGYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGST STICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGTSFDKSSHTWVALSHIAGLCNR AVFKGGQDNIPVLKRDVAGDASESALLKCIELSSGSVKLMRERNKKVAEIPFNSTNKYQL SIHETEDPNDNRYLLVMKGAPERILDRCSTILLQGKEQPLDEEMKEAFQNAYLELGGLGE RVLGFCHYYLPEEQFPKGFAFDCDDVNFTTDNLCFVGLMSMIDPPRAAVPDAVGKCRSAG IKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVIHGTDL KDFTSEQIDEILQNHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADI GVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPF LLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDIMKRQPRNPRTDKLVNERLI SMAYGQIGMIQALGGFFSYFVILAENGFLPGNLVGIRLNWDDRTVNDLEDSYGQQWTYEQ RKVVEFTCHTAFFVSIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSY CPGMDVALRMYPLKPSWWFCAFPYSFLIFVYDEIRKLILRRNPGGWVEKETYY
- Number of residues
- 1013
- Molecular Weight
- 111747.51
- Theoretical pI
- Not Available
- GO Classification
- FunctionsATP binding / chaperone binding / metal ion binding / sodium / steroid hormone bindingProcessesadult locomotory behavior / ATP hydrolysis coupled proton transport / cell communication by electrical coupling involved in cardiac conduction / cellular potassium ion homeostasis / cellular response to steroid hormone stimulus / cellular sodium ion homeostasis / establishment or maintenance of transmembrane electrochemical gradient / ion transmembrane transport / ionotropic glutamate receptor signaling pathway / memory / potassium ion import / response to drug / response to glycoside / sodium ion export from cell / transmembrane transport / visual learningComponentsaxon / dendritic spine head / dendritic spine neck / endoplasmic reticulum / extracellular vesicle / Golgi apparatus / integral component of membrane / myelin sheath / nucleus / plasma membrane / sodium / synapse
- General Function
- Steroid hormone binding
- Specific Function
- This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients.
- Pfam Domain Function
- Transmembrane Regions
- 78-98 122-142 279-298 311-328 763-782 793-813 834-856 909-928 942-960 976-996
- Cellular Location
- Cell membrane
- Gene sequence
>lcl|BSEQ0021718|Sodium/potassium-transporting ATPase subunit alpha-3 (ATP1A3) ATGGGAGGCTGGGAGGAGGAGAGGAACAGGAGAGCCACGGACAAGAAAGATGACAAGGAC TCACCCAAGAAGAACAAGGGCAAGGAGCGCCGGGACCTGGATGACCTCAAGAAGGAGGTG GCTATGACAGAGCACAAGATGTCAGTGGAAGAGGTCTGCCGGAAATACAACACAGACTGT GTGCAGGGTTTGACCCACAGCAAAGCCCAGGAGATCCTGGCCCGGGATGGGCCTAACGCA CTCACGCCACCGCCTACCACCCCAGAGTGGGTCAAGTTTTGCCGGCAGCTCTTCGGGGGC TTCTCCATCCTGCTGTGGATCGGGGCTATCCTCTGCTTCCTGGCCTACGGTATCCAGGCG GGCACCGAGGACGACCCCTCTGGTGACAACCTGTACCTGGGCATCGTGCTGGCGGCCGTG GTGATCATCACTGGCTGCTTCTCCTACTACCAGGAGGCCAAGAGCTCCAAGATCATGGAG TCCTTCAAGAACATGGTGCCCCAGCAAGCCCTGGTGATCCGGGAAGGTGAGAAGATGCAG GTGAACGCTGAGGAGGTGGTGGTCGGGGACCTGGTGGAGATCAAGGGTGGAGACCGAGTG CCAGCTGACCTGCGGATCATCTCAGCCCACGGCTGCAAGGTGGACAACTCCTCCCTGACT GGCGAATCCGAGCCCCAGACTCGCTCTCCCGACTGCACTCACGACAACCCCTTGGAGACT CGGAACATCACCTTCTTTTCCACCAACTGTGTGGAAGGCACGGCTCGGGGCGTGGTGGTG GCCACGGGCGACCGCACTGTCATGGGCCGTATCGCCACCCTGGCATCAGGGCTGGAGGTG GGCAAGACGCCCATCGCCATCGAGATTGAGCACTTCATCCAGCTCATCACCGGCGTGGCT GTCTTCCTGGGTGTCTCCTTCTTCATCCTCTCCCTCATTCTCGGATACACCTGGCTTGAG GCTGTCATCTTCCTCATCGGCATCATCGTGGCCAATGTCCCAGAGGGTCTGCTGGCCACT GTCACTGTGTGTCTGACGCTGACCGCCAAGCGCATGGCCCGGAAGAACTGCCTGGTGAAG AACCTGGAGGCTGTAGAAACCCTGGGCTCCACGTCCACCATCTGCTCAGATAAGACAGGG ACCCTCACTCAGAACCGCATGACAGTCGCCCACATGTGGTTTGACAACCAGATCCACGAG GCTGACACCACTGAGGACCAGTCAGGGACCTCATTTGACAAGAGTTCGCACACCTGGGTG GCCCTGTCTCACATCGCTGGGCTCTGCAATCGCGCTGTCTTCAAGGGTGGTCAGGACAAC ATCCCTGTGCTCAAGAGGGATGTGGCTGGGGATGCGTCTGAGTCTGCCCTGCTCAAGTGC ATCGAGCTGTCCTCTGGCTCCGTGAAGCTGATGCGTGAACGCAACAAGAAAGTGGCTGAG ATTCCCTTCAATTCCACCAACAAATACCAGCTCTCCATCCATGAGACCGAGGACCCCAAC GACAACCGATACCTGCTGGTGATGAAGGGTGCCCCCGAGCGCATCCTGGACCGCTGCTCC ACCATCCTGCTACAGGGCAAGGAGCAGCCTCTGGACGAGGAAATGAAGGAGGCCTTCCAG AATGCCTACCTTGAGCTCGGTGGCCTGGGCGAGCGCGTGCTTGGTTTCTGCCATTATTAC CTGCCCGAGGAGCAGTTCCCCAAGGGCTTTGCCTTCGACTGTGATGACGTGAACTTCACC ACGGACAACCTCTGCTTTGTGGGCCTCATGTCCATGATCGACCCACCCCGGGCAGCCGTC CCTGACGCGGTGGGCAAGTGTCGCAGCGCAGGCATCAAGGTCATCATGGTCACCGGCGAT CACCCCATCACGGCCAAGGCCATTGCCAAGGGTGTGGGCATCATCTCTGAGGGCAACGAG ACTGTGGAGGACATCGCCGCCCGGCTCAACATTCCCGTCAGCCAGGTTAACCCCCGGGAT GCCAAGGCCTGCGTGATCCACGGCACCGACCTCAAGGACTTCACCTCCGAGCAAATCGAC GAGATCCTGCAGAATCACACCGAGATCGTCTTCGCCCGCACATCCCCCCAGCAGAAGCTC ATCATTGTGGAGGGCTGTCAGAGACAGGGTGCAATTGTGGCTGTGACCGGGGATGGTGTG AACGACTCCCCCGCTCTGAAGAAGGCCGACATTGGGGTGGCCATGGGCATCGCTGGCTCT GACGTCTCCAAGCAGGCAGCTGACATGATCCTGCTGGACGACAACTTTGCCTCCATCGTC ACAGGGGTGGAGGAGGGCCGCCTGATCTTCGACAACCTAAAGAAGTCCATTGCCTACACC CTGACCAGCAATATCCCGGAGATCACGCCCTTCCTGCTGTTCATCATGGCCAACATCCCG CTGCCCCTGGGCACCATCACCATCCTCTGCATCGATCTGGGCACTGACATGGTCCCTGCC ATCTCACTGGCGTACGAGGCTGCCGAAAGCGACATCATGAAGAGACAGCCCAGGAACCCG CGGACGGACAAATTGGTCAATGAGAGACTCATCAGCATGGCCTACGGGCAGATTGGAATG ATCCAGGCTCTCGGTGGCTTCTTCTCTTACTTTGTGATCCTGGCAGAAAATGGCTTCTTG CCCGGCAACCTGGTGGGCATCCGGCTGAACTGGGATGACCGCACCGTCAATGACCTGGAA GACAGTTACGGGCAGCAGTGGACATACGAGCAGAGGAAGGTGGTGGAGTTCACCTGCCAC ACGGCCTTCTTTGTGAGCATCGTTGTCGTCCAGTGGGCCGATCTGATCATCTGCAAGACC CGGAGGAACTCGGTCTTCCAGCAGGGCATGAAGAACAAGATCCTGATCTTCGGGCTGTTT GAGGAGACGGCCCTGGCTGCCTTCCTGTCCTACTGCCCCGGCATGGACGTGGCCCTGCGC ATGTACCCTCTCAAGCCCAGCTGGTGGTTCTGTGCCTTCCCCTACAGTTTCCTCATCTTC GTCTACGACGAAATCCGCAAACTCATCCTGCGCAGGAACCCAGGGGGTTGGGTGGAGAAG GAAACCTACTACTGA
- Chromosome Location
- 19
- Locus
- Not Available
- External Identifiers
Resource Link UniProtKB ID P13637 UniProtKB Entry Name AT1A3_HUMAN HGNC ID HGNC:801 - General References
- Ovchinnikov YuA, Monastyrskaya GS, Broude NE, Ushkaryov YuA, Melkov AM, Smirnov YuV, Malyshev IV, Allikmets RL, Kostina MB, Dulubova IE, et al.: 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. 1988 Jun 6;233(1):87-94. [Article]
- Sverdlov ED, Monastyrskaia GS, Broude NE, Ushkarev IuA, Melkov AM: [The family of human Na+,K+-ATPase genes. Structure of the gene for isozyme alphaII]. Dokl Akad Nauk SSSR. 1987;297(6):1488-94. [Article]
- 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 TO, 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. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [Article]
- Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, 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, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, 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 SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, 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 TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM: The DNA sequence and biology of human chromosome 19. Nature. 2004 Apr 1;428(6982):529-35. [Article]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
- Ovchinnikov YuA, Monastyrskaya GS, Broude NE, Allikmets RL, Ushkaryov YuA, Melkov AM, Smirnov YuV, Malyshev IV, Dulubova IE, Petrukhin KE, et al.: The family of human Na+,K+-ATPase genes. A partial nucleotide sequence related to the alpha-subunit. FEBS Lett. 1987 Mar 9;213(1):73-80. [Article]
- Sverdlov ED, Monastyrskaya GS, Broude NE, Ushkaryov YuA, Allikmets RL, Melkov AM, Smirnov YuV, Malyshev IV, Dulobova IE, Petrukhin KE, et al.: The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit. FEBS Lett. 1987 Jun 15;217(2):275-8. [Article]
- Hundal HS, Maxwell DL, 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. 1994 Oct-Dec;11(4):255-62. [Article]
- Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. [Article]
- de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A, Ozelius LJ: Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron. 2004 Jul 22;43(2):169-75. [Article]
- Blanco-Arias P, Einholm AP, Mamsa H, Concheiro C, Gutierrez-de-Teran H, Romero J, Toustrup-Jensen MS, Carracedo A, Jen JC, Vilsen B, Sobrido MJ: A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism. Hum Mol Genet. 2009 Jul 1;18(13):2370-7. doi: 10.1093/hmg/ddp170. Epub 2009 Apr 7. [Article]
- Anselm IA, Sweadner KJ, Gollamudi S, Ozelius LJ, Darras BT: Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. Neurology. 2009 Aug 4;73(5):400-1. doi: 10.1212/WNL.0b013e3181b04acd. [Article]
- 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. 2012 Sep;11(9):764-73. doi: 10.1016/S1474-4422(12)70182-5. Epub 2012 Jul 30. [Article]
- Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E, Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptacek LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB: De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29. [Article]
- 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. 2013;8(2):e56120. doi: 10.1371/journal.pone.0056120. Epub 2013 Feb 8. [Article]
- Demos MK, van Karnebeek CD, Ross CJ, Adam S, Shen Y, Zhan SH, Shyr C, Horvath G, Suri M, Fryer A, Jones SJ, Friedman JM: A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. Orphanet J Rare Dis. 2014 Jan 28;9:15. doi: 10.1186/1750-1172-9-15. [Article]
Drug Relations
- Drug Relations
DrugBank ID Name Drug group Pharmacological action? Actions Details DB01092 Ouabain approved unknown inhibitor Details DB09479 Rubidium Rb-82 approved, investigational no substrate Details DB09020 Bisacodyl approved unknown inhibitor Details DB16690 Tegoprazan investigational yes inhibitor Details DB01250 Olsalazine approved unknown inhibitor Details