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

Functions

ATP binding / chaperone binding / metal ion binding / sodium / steroid hormone binding

Processes

adult 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 learning

Components

axon / 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

• Cation_ATPase_C (PF00689)
• Cation_ATPase_N (PF00690)
• E1-E2_ATPase (PF00122)

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

1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
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11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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