ATPase, Na+/K+ transporting, alpha 1

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox protein family

| Symbol = H-K_ATPase_N

| Name = Gastric H⁺/K⁺-ATPase, N terminal domain

| image = PDB 1iwc EBI.jpg

| width =

| caption = tfe-induded structure of the n-terminal domain of pig gastric h/k-atpase

| Pfam = PF09040

| Pfam_clan =

| InterPro = IPR015127

| SMART =

| PROSITE =

| MEROPS =

| SCOP =

| TCDB =

| OPM family =

| OPM protein =

| CAZy =

| CDD =

}}

Sodium/potassium-transporting ATPase subunit alpha-1 is an enzyme that in humans is encoded by the ATP1A1 gene.{{cite web | title = Entrez Gene: ATP1A1 ATPase, Na⁺/K⁺ transporting, alpha 1 polypeptide| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=476}}

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na⁺/K⁺-ATPases. Na⁺/K⁺-ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na⁺/K⁺-ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified.

In melanocytic cells ATP1A1 gene expression may be regulated by MITF.{{cite journal | vauthors = Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E | title = Novel MITF targets identified using a two-step DNA microarray strategy | journal = Pigment Cell & Melanoma Research | volume = 21 | issue = 6 | pages = 665–76 | date = December 2008 | pmid = 19067971 | doi = 10.1111/j.1755-148X.2008.00505.x | doi-access = free }}

Clinical relevance

Mutations in this gene have been associated with aldosterone-producing adenomas and secondary hypertension.{{cite journal | vauthors = Beuschlein F, Boulkroun S, Osswald A, Wieland T, Nielsen HN, Lichtenauer UD, Penton D, Schack VR, Amar L, Fischer E, Walther A, Tauber P, Schwarzmayr T, Diener S, Graf E, Allolio B, Samson-Couterie B, Benecke A, Quinkler M, Fallo F, Plouin PF, Mantero F, Meitinger T, Mulatero P, Jeunemaitre X, Warth R, Vilsen B, Zennaro MC, Strom TM, Reincke M | title = Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension | journal = Nature Genetics | volume = 45 | issue = 4 | pages = 440–4, 444e1-2 | date = April 2013 | pmid = 23416519 | doi = 10.1038/ng.2550 | hdl = 11577/2573243 | s2cid = 205346722 | hdl-access = free }}

References

{{cite journal | vauthors = Lingrel JB, Orlowski J, Shull MM, Price EM | title = Molecular genetics of Na,K-ATPase | journal = Progress in Nucleic Acid Research and Molecular Biology | volume = 38 | pages = 37–89 | year = 1990 | pmid = 2158121 | doi = 10.1016/S0079-6603(08)60708-4 | isbn = 9780125400381 }}
{{cite journal | vauthors = Dunbar LA, Caplan MJ | title = Ion pumps in polarized cells: sorting and regulation of the Na+, K+- and H+, K+-ATPases | journal = The Journal of Biological Chemistry | volume = 276 | issue = 32 | pages = 29617–20 | date = August 2001 | pmid = 11404365 | doi = 10.1074/jbc.R100023200 | doi-access = free }}
{{cite journal | vauthors = Wangemann P | title = K+ cycling and the endocochlear potential | journal = Hearing Research | volume = 165 | issue = 1–2 | pages = 1–9 | date = March 2002 | pmid = 12031509 | doi = 10.1016/S0378-5955(02)00279-4 | s2cid = 18118568 }}
{{cite journal | vauthors = Xie Z, Cai T | title = Na+-K+--ATPase-mediated signal transduction: from protein interaction to cellular function | journal = Molecular Interventions | volume = 3 | issue = 3 | pages = 157–68 | date = May 2003 | pmid = 14993422 | doi = 10.1124/mi.3.3.157 }}
{{cite journal | vauthors = Shull MM, Pugh DG, Lingrel JB | title = The human Na, K-ATPase alpha 1 gene: characterization of the 5'-flanking region and identification of a restriction fragment length polymorphism | journal = Genomics | volume = 6 | issue = 3 | pages = 451–60 | date = March 1990 | pmid = 1970326 | doi = 10.1016/0888-7543(90)90475-A }}
{{cite journal | vauthors = Herrera VL, Ruiz-Opazo N | title = Alteration of alpha 1 Na+,K(+)-ATPase 86Rb+ influx by a single amino acid substitution | journal = Science | volume = 249 | issue = 4972 | pages = 1023–6 | date = August 1990 | pmid = 1975705 | doi = 10.1126/science.1975705 }}
{{cite journal | vauthors = Kawakami K, Ohta T, Nojima H, Nagano K | title = Primary structure of the alpha-subunit of human Na,K-ATPase deduced from cDNA sequence | journal = Journal of Biochemistry | volume = 100 | issue = 2 | pages = 389–97 | date = August 1986 | pmid = 2430951 | doi = 10.1093/oxfordjournals.jbchem.a121726}}
{{cite journal | vauthors = Yang-Feng TL, Schneider JW, Lindgren V, Shull MM, Benz EJ, Lingrel JB, Francke U | title = Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes | journal = Genomics | volume = 2 | issue = 2 | pages = 128–38 | date = February 1988 | pmid = 2842249 | doi = 10.1016/0888-7543(88)90094-8 }}
{{cite journal | vauthors = Sverdlov ED, Broude NE, Sverdlov VE, Monastyrskaya GS, Grishin AV, Petrukhin KE, Akopyanz NS, Modyanov NN | title = Family of Na+,K+-ATPase genes. Intra-individual tissue-specific restriction fragment length polymorphism | journal = FEBS Letters | volume = 221 | issue = 1 | pages = 129–33 | date = August 1987 | pmid = 2887455 | doi = 10.1016/0014-5793(87)80366-6 | doi-access = free }}
{{cite journal | vauthors = Chehab FF, Kan YW, Law ML, Hartz J, Kao FT, Blostein R | title = Human placental Na+,K+-ATPase alpha subunit: cDNA cloning, tissue expression, DNA polymorphism, and chromosomal localization | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 84 | issue = 22 | pages = 7901–5 | date = November 1987 | pmid = 2891135 | pmc = 299443 | doi = 10.1073/pnas.84.22.7901 | bibcode = 1987PNAS...84.7901C | doi-access = free }}
{{cite journal | vauthors = Monastyrskaya GS, Broude NE, Allikmets RL, Melkov AM, Malyshev IV, Dulubova IE, Petrukhin KE | title = The family of human Na+,K+-ATPase genes. A partial nucleotide sequence related to the alpha-subunit | journal = FEBS Letters | volume = 213 | issue = 1 | pages = 73–80 | date = March 1987 | pmid = 3030810 | doi = 10.1016/0014-5793(87)81467-9 | doi-access = free }}
{{cite journal | vauthors = Shull MM, Lingrel JB | title = Multiple genes encode the human Na+,K+-ATPase catalytic subunit | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 84 | issue = 12 | pages = 4039–43 | date = June 1987 | pmid = 3035563 | pmc = 305017 | doi = 10.1073/pnas.84.12.4039 | bibcode = 1987PNAS...84.4039S | doi-access = free }}
{{cite journal | vauthors = Sverdlov ED, Monastyrskaya GS, Broude NE, Allikmets RL, Melkov AM, Malyshev IV, Dulobova IE, Petrukhin KE | title = The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit | journal = FEBS Letters | volume = 217 | issue = 2 | pages = 275–8 | date = June 1987 | pmid = 3036582 | doi = 10.1016/0014-5793(87)80677-4 | doi-access = free }}
{{cite journal | vauthors = Ruiz A, Bhat SP, Bok D | title = Characterization and quantification of full-length and truncated Na,K-ATPase alpha 1 and beta 1 RNA transcripts expressed in human retinal pigment epithelium | journal = Gene | volume = 155 | issue = 2 | pages = 179–84 | date = April 1995 | pmid = 7536695 | doi = 10.1016/0378-1119(94)00812-7 }}
{{cite journal | vauthors = Hundal HS, Maxwell DL, Ahmed A, Darakhshan F, Mitsumoto Y, Klip A | title = Subcellular distribution and immunocytochemical localization of Na,K-ATPase subunit isoforms in human skeletal muscle | journal = Molecular Membrane Biology | volume = 11 | issue = 4 | pages = 255–62 | year = 1995 | pmid = 7711835 | doi = 10.3109/09687689409160435 }}
{{cite journal | vauthors = Feschenko MS, Sweadner KJ | title = Structural basis for species-specific differences in the phosphorylation of Na,K-ATPase by protein kinase C | journal = The Journal of Biological Chemistry | volume = 270 | issue = 23 | pages = 14072–7 | date = June 1995 | pmid = 7775468 | doi = 10.1074/jbc.270.23.14072 | doi-access = free }}
{{cite journal | vauthors = Ruiz-Opazo N, Barany F, Hirayama K, Herrera VL | title = Confirmation of mutant alpha 1 Na,K-ATPase gene and transcript in Dahl salt-sensitive/JR rats | journal = Hypertension | volume = 24 | issue = 3 | pages = 260–70 | date = September 1994 | pmid = 8082931 | doi = 10.1161/01.hyp.24.3.260 | doi-access = free }}
{{cite journal | vauthors = Zahler R, Gilmore-Hebert M, Baldwin JC, Franco K, Benz EJ | title = Expression of alpha isoforms of the Na,K-ATPase in human heart | journal = Biochimica et Biophysica Acta (BBA) - Biomembranes | volume = 1149 | issue = 2 | pages = 189–94 | date = July 1993 | pmid = 8391840 | doi = 10.1016/0005-2736(93)90200-J }}
{{cite journal | vauthors = Wang J, Schwinger RH, Frank K, Müller-Ehmsen J, Martin-Vasallo P, Pressley TA, Xiang A, Erdmann E, McDonough AA | title = Regional expression of sodium pump subunits isoforms and Na+-Ca++ exchanger in the human heart | journal = The Journal of Clinical Investigation | volume = 98 | issue = 7 | pages = 1650–8 | date = October 1996 | pmid = 8833915 | pmc = 507599 | doi = 10.1172/JCI118960 }}

ATPase, Na+/K+ transporting, alpha 1

Clinical relevance

References

Further reading