ATPase, Na+/K+ transporting, alpha 1

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/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
Symbol	H-K_ATPase_N
Pfam	PF09040
InterPro	IPR015127
Available protein structures: Pfam structures PDB RCSB PDB; PDBe; PDBj PDBsum structure summary

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

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.

Clinical relevance

Mutations in this gene have been associated with aldosterone-producing adenomas and secondary hypertension. (PMID 23416519).

Further reading

• Lingrel JB, Orlowski J, Shull MM, Price EM (1990). "Molecular genetics of Na,K-ATPase". Prog. Nucleic Acid Res. Mol. Biol. 38: 37–89. doi:10.1016/S0079-6603(08)60708-4. PMID 2158121.
• Dunbar LA, Caplan MJ (2001). "Ion pumps in polarized cells: sorting and regulation of the Na⁺, K⁺- and H⁺, K⁺-ATPases". J. Biol. Chem. 276 (32): 29617–20. doi:10.1074/jbc.R100023200. PMID 11404365.
• Wangemann P (2002). "K⁺ cycling and the endocochlear potential". Hear. Res. 165 (1–2): 1–9. doi:10.1016/S0378-5955(02)00279-4. PMID 12031509.
• Xie Z, Cai T (2004). "Na⁺-K⁺--ATPase-mediated signal transduction: from protein interaction to cellular function". Mol. Interv. 3 (3): 157–68. doi:10.1124/mi.3.3.157. PMID 14993422.
• Shull MM, Pugh DG, Lingrel JB (1990). "The human Na, K-ATPase alpha 1 gene: characterization of the 5'-flanking region and identification of a restriction fragment length polymorphism". Genomics. 6 (3): 451–60. doi:10.1016/0888-7543(90)90475-A. PMID 1970326.
• Herrera VL, Ruiz-Opazo N (1990). "Alteration of alpha 1 Na⁺,K⁺ATPase 86Rb+ influx by a single amino acid substitution". Science. 249 (4972): 1023–6. doi:10.1126/science.1975705. PMID 1975705.
• Kawakami K, Ohta T, Nojima H, Nagano K (1986). "Primary structure of the alpha-subunit of human Na,K-ATPase deduced from cDNA sequence". J. Biochem. 100 (2): 389–97. PMID 2430951.
• Yang-Feng TL, Schneider JW, Lindgren V, et al. (1988). "Chromosomal localization of human Na⁺, K⁺-ATPase alpha- and beta-subunit genes". Genomics. 2 (2): 128–38. doi:10.1016/0888-7543(88)90094-8. PMID 2842249.
• Sverdlov ED, Broude NE, Sverdlov VE, et al. (1987). "Family of Na⁺,K⁺-ATPase genes. Intra-individual tissue-specific restriction fragment length polymorphism". FEBS Lett. 221 (1): 129–33. doi:10.1016/0014-5793(87)80366-6. PMID 2887455.
• Chehab FF, Kan YW, Law ML, et al. (1987). "Human placental Na⁺,K⁺-ATPase alpha subunit: cDNA cloning, tissue expression, DNA polymorphism, and chromosomal localization". Proc. Natl. Acad. Sci. U.S.A. 84 (22): 7901–5. doi:10.1073/pnas.84.22.7901. PMC 299443. PMID 2891135.
• Ovchinnikov YuA, Monastyrskaya GS, Broude NE, et al. (1987). "The family of human Na⁺,K⁺-ATPase genes. A partial nucleotide sequence related to the alpha-subunit". FEBS Lett. 213 (1): 73–80. doi:10.1016/0014-5793(87)81467-9. PMID 3030810.
• Shull MM, Lingrel JB (1987). "Multiple genes encode the human Na⁺,K⁺-ATPase catalytic subunit". Proc. Natl. Acad. Sci. U.S.A. 84 (12): 4039–43. doi:10.1073/pnas.84.12.4039. PMC 305017. PMID 3035563.
• Sverdlov ED, Monastyrskaya GS, Broude NE, et al. (1987). "The family of human Na⁺,K⁺-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit". FEBS Lett. 217 (2): 275–8. doi:10.1016/0014-5793(87)80677-4. PMID 3036582.
• Ruiz A, Bhat SP, Bok D (1995). "Characterization and quantification of full-length and truncated Na,K-ATPase alpha 1 and beta 1 RNA transcripts expressed in human retinal pigment epithelium". Gene. 155 (2): 179–84. doi:10.1016/0378-1119(94)00812-7. PMID 7536695.
• Hundal HS, Maxwell DL, Ahmed A, et al. (1995). "Subcellular distribution and immunocytochemical localization of Na,K-ATPase subunit isoforms in human skeletal muscle". Mol. Membr. Biol. 11 (4): 255–62. doi:10.3109/09687689409160435. PMID 7711835.
• Feschenko MS, Sweadner KJ (1995). "Structural basis for species-specific differences in the phosphorylation of Na,K-ATPase by protein kinase C.". J. Biol. Chem. 270 (23): 14072–7. doi:10.1074/jbc.270.23.14072. PMID 7775468.
• Ruiz-Opazo N, Barany F, Hirayama K, Herrera VL (1994). "Confirmation of mutant alpha 1 Na,K-ATPase gene and transcript in Dahl salt-sensitive/JR rats". Hypertension. 24 (3): 260–70. doi:10.1161/01.hyp.24.3.260. PMID 8082931.
• Zahler R, Gilmore-Hebert M, Baldwin JC, et al. (1993). "Expression of alpha isoforms of the Na,K-ATPase in human heart". Biochim. Biophys. Acta. 1149 (2): 189–94. doi:10.1016/0005-2736(93)90200-J. PMID 8391840.
• Wang J, Schwinger RH, Frank K, et al. (1996). "Regional expression of sodium pump subunits isoforms and Na⁺-Ca⁺⁺ exchanger in the human heart". J. Clin. Invest. 98 (7): 1650–8. doi:10.1172/JCI118960. PMC 507599. PMID 8833915.