ATPase, Na+/K+ transporting, alpha 1: Difference between revisions

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


The [[protein]] encoded by this gene belongs to the family of [[P-ATPase|P-type]] [[Ion transporter|cation transport]] [[ATPase]]s, and to the subfamily of [[Na+/K+-ATPase|Na<sup>+</sup>/K<sup>+</sup>-ATPase]]s. Na<sup>+</sup>/K<sup>+</sup>-ATPase is an integral [[membrane protein]] responsible for establishing and maintaining the [[electrochemical gradient]]s of [[Sodium|Na]] and [[Potassium|K]] [[ion]]s across the [[plasma membrane]]. These gradients are essential for [[osmoregulation]], for sodium-[[Co-transport|coupled]] [[Active transport|transport]] of a variety of [[organic compound|organic]] and [[inorganic compound|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<sup>+</sup>/K<sup>+</sup>-ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Alternatively spliced transcript variants encoding different [[isoform]]s have been identified.<ref name="entrez"/>
The [[protein]] encoded by this gene belongs to the family of [[P-ATPase|P-type]] [[Ion transporter|cation transport]] [[ATPase]]s, and to the subfamily of [[Na+/K+-ATPase|Na<sup>+</sup>/K<sup>+</sup>-ATPase]]s. Na<sup>+</sup>/K<sup>+</sup>-ATPase is an integral [[membrane protein]] responsible for establishing and maintaining the [[electrochemical gradient]]s of [[Sodium|Na]] and [[Potassium|K]] [[ion]]s across the [[plasma membrane]]. These gradients are essential for [[osmoregulation]], for sodium-[[Co-transport|coupled]] [[Active transport|transport]] of a variety of [[organic compound|organic]] and [[inorganic compound|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<sup>+</sup>/K<sup>+</sup>-ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Alternatively spliced transcript variants encoding different [[isoform]]s have been identified.<ref name="entrez"/>


In melanocytic cells ATP1A1 gene expression may be regulated by [[Microphthalmia-associated transcription factor|MITF]].<ref name="pmid19067971">{{cite journal | vauthors = Hoek KS, Schlegel NC, Eichhoff OM | title = Novel MITF targets identified using a two-step DNA microarray strategy | journal = Pigment Cell Melanoma Res. | volume = 21 | issue = 6 | pages = 665–76 | year = 2008 | pmid = 19067971 | doi = 10.1111/j.1755-148X.2008.00505.x | issn = |display-authors=etal}}</ref>
In melanocytic cells ATP1A1 gene expression may be regulated by [[Microphthalmia-associated transcription factor|MITF]].<ref name="pmid19067971">{{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 }}</ref>


==Clinical relevance==
==Clinical relevance==
Mutations in this gene have been associated with aldosterone-producing [[adenomas]] and secondary [[hypertension]]. ({{PMID|23416519}}).
Mutations in this gene have been associated with aldosterone-producing [[adenomas]] and secondary [[hypertension]].<ref name="pmid23416519">{{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 }}</ref>


==References==
== References ==
{{reflist}}
{{reflist}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{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 | issue = | pages = 37–89 | year = 1990 | pmid = 2158121 | doi = 10.1016/S0079-6603(08)60708-4 }}
| citations =
* {{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 }}
*{{cite journal | vauthors=Lingrel JB, Orlowski J, Shull MM, Price EM |title=Molecular genetics of Na,K-ATPase. |journal=Prog. Nucleic Acid Res. Mol. Biol. |volume=38 |issue= |pages= 37–89 |year= 1990 |pmid= 2158121 |doi=10.1016/S0079-6603(08)60708-4 }}
* {{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 }}
*{{cite journal | vauthors=Dunbar LA, Caplan MJ |title=Ion pumps in polarized cells: sorting and regulation of the Na<sup>+</sup>, K<sup>+</sup>- and H<sup>+</sup>, K<sup>+</sup>-ATPases. |journal=J. Biol. Chem. |volume=276 |issue= 32 |pages= 29617–20 |year= 2001 |pmid= 11404365 |doi= 10.1074/jbc.R100023200 }}
* {{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 | author=Wangemann P |title=K<sup>+</sup> cycling and the endocochlear potential. |journal=Hear. Res. |volume=165 |issue= 1-2 |pages= 1–9 |year= 2002 |pmid= 12031509 |doi=10.1016/S0378-5955(02)00279-4 }}
* {{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=Xie Z, Cai T |title=Na<sup>+</sup>-K<sup>+</sup>--ATPase-mediated signal transduction: from protein interaction to cellular function. |journal=Mol. Interv. |volume=3 |issue= 3 |pages= 157–68 |year= 2004 |pmid= 14993422 |doi= 10.1124/mi.3.3.157 }}
* {{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=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 |year= 1990 |pmid= 1970326 |doi=10.1016/0888-7543(90)90475-A }}
* {{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 = }}
*{{cite journal | vauthors=Herrera VL, Ruiz-Opazo N |title=Alteration of alpha 1 Na<sup>+</sup>,K<sup>+</sup>ATPase 86Rb+ influx by a single amino acid substitution. |journal=Science |volume=249 |issue= 4972 |pages= 1023–6 |year= 1990 |pmid= 1975705 |doi=10.1126/science.1975705 }}
* {{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=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=J. Biochem. |volume=100 |issue= 2 |pages= 389–97 |year= 1986 |pmid= 2430951 |doi= }}
* {{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 }}
*{{cite journal | vauthors=Yang-Feng TL, Schneider JW, Lindgren V |title=Chromosomal localization of human Na<sup>+</sup>, K<sup>+</sup>-ATPase alpha- and beta-subunit genes. |journal=Genomics |volume=2 |issue= 2 |pages= 128–38 |year= 1988 |pmid= 2842249 |doi=10.1016/0888-7543(88)90094-8 |display-authors=etal}}
* {{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 }}
*{{cite journal | vauthors=Sverdlov ED, Broude NE, Sverdlov VE |title=Family of Na<sup>+</sup>,K<sup>+</sup>-ATPase genes. Intra-individual tissue-specific restriction fragment length polymorphism. |journal=FEBS Lett. |volume=221 |issue= 1 |pages= 129–33 |year= 1987 |pmid= 2887455 |doi=10.1016/0014-5793(87)80366-6 |display-authors=etal}}
* {{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 }}
*{{cite journal | vauthors=Chehab FF, Kan YW, Law ML |title=Human placental Na<sup>+</sup>,K<sup>+</sup>-ATPase alpha subunit: cDNA cloning, tissue expression, DNA polymorphism, and chromosomal localization. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=84 |issue= 22 |pages= 7901–5 |year= 1987 |pmid= 2891135 | pmc=299443 |doi=10.1073/pnas.84.22.7901 |display-authors=etal}}
* {{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 }}
*{{cite journal | vauthors=((Ovchinnikov YuA)), Monastyrskaya GS, Broude NE |title=The family of human Na<sup>+</sup>,K<sup>+</sup>-ATPase genes. A partial nucleotide sequence related to the alpha-subunit. |journal=FEBS Lett. |volume=213 |issue= 1 |pages= 73–80 |year= 1987 |pmid= 3030810 |doi=10.1016/0014-5793(87)81467-9 |display-authors=etal}}
* {{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 }}
*{{cite journal | vauthors=Shull MM, Lingrel JB |title=Multiple genes encode the human Na<sup>+</sup>,K<sup>+</sup>-ATPase catalytic subunit. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=84 |issue= 12 |pages= 4039–43 |year= 1987 |pmid= 3035563 | pmc=305017 |doi=10.1073/pnas.84.12.4039 }}
* {{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=Sverdlov ED, Monastyrskaya GS, Broude NE |title=The family of human Na<sup>+</sup>,K<sup>+</sup>-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit. |journal=FEBS Lett. |volume=217 |issue= 2 |pages= 275–8 |year= 1987 |pmid= 3036582 |doi=10.1016/0014-5793(87)80677-4 |display-authors=etal}}
* {{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=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 |year= 1995 |pmid= 7536695 |doi=10.1016/0378-1119(94)00812-7 }}
* {{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 }}
*{{cite journal | vauthors=Hundal HS, Maxwell DL, Ahmed A |title=Subcellular distribution and immunocytochemical localization of Na,K-ATPase subunit isoforms in human skeletal muscle. |journal=Mol. Membr. Biol. |volume=11 |issue= 4 |pages= 255–62 |year= 1995 |pmid= 7711835 |doi=10.3109/09687689409160435 |display-authors=etal}}
* {{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 }}
*{{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=J. Biol. Chem. |volume=270 |issue= 23 |pages= 14072–7 |year= 1995 |pmid= 7775468 |doi=10.1074/jbc.270.23.14072 }}
* {{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 | volume = 1149 | issue = 2 | pages = 189–94 | date = July 1993 | pmid = 8391840 | doi = 10.1016/0005-2736(93)90200-J }}
*{{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 |year= 1994 |pmid= 8082931 |doi= 10.1161/01.hyp.24.3.260}}
* {{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 }}
*{{cite journal | vauthors=Zahler R, Gilmore-Hebert M, Baldwin JC |title=Expression of alpha isoforms of the Na,K-ATPase in human heart. |journal=Biochim. Biophys. Acta |volume=1149 |issue= 2 |pages= 189–94 |year= 1993 |pmid= 8391840 |doi=10.1016/0005-2736(93)90200-J |display-authors=etal}}
*{{cite journal | vauthors=Wang J, Schwinger RH, Frank K |title=Regional expression of sodium pump subunits isoforms and Na<sup>+</sup>-Ca<sup>++</sup> exchanger in the human heart. |journal=J. Clin. Invest. |volume=98 |issue= 7 |pages= 1650–8 |year= 1996 |pmid= 8833915 | pmc=507599 |doi= 10.1172/JCI118960|display-authors=etal}}
}}
{{refend}}
{{refend}}
{{PDB Gallery|geneid=476}}
{{PDB Gallery|geneid=476}}


{{ATPases}}
{{ATPases}}
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{{gene-1-stub}}
{{gene-1-stub}}

Latest revision as of 07:58, 23 June 2018

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human
Gastric H+/K+-ATPase, N terminal domain
File:PDB 1iwc EBI.jpg
tfe-induded structure of the n-terminal domain of pig gastric h/k-atpase
Identifiers
SymbolH-K_ATPase_N
PfamPF09040
InterProIPR015127

Sodium/potassium-transporting ATPase subunit alpha-1 is an enzyme that in humans is encoded by the ATP1A1 gene.[1]

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.[1]

In melanocytic cells ATP1A1 gene expression may be regulated by MITF.[2]

Clinical relevance

Mutations in this gene have been associated with aldosterone-producing adenomas and secondary hypertension.[3]

References

  1. 1.0 1.1 "Entrez Gene: ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide".
  2. Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (December 2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell & Melanoma Research. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
  3. 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 (April 2013). "Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension". Nature Genetics. 45 (4): 440–4, 444e1–2. doi:10.1038/ng.2550. PMID 23416519.

Further reading