ATP1A1

ATP1A1

A gene on chromosome 1p21 that encodes an alpha 1 (catalytic) subunit of the family of P-type cation transport ATPases and subfamily of Na+/K+ -ATPases. These Na+/K+ -ATPases are heterodimers composed of a large alpha subunit and a smaller beta subunit, and are responsible for establishing and maintaining the electrochemical gradients of Na and K ions across plasma membranes. These electrochemical gradients are required for osmoregulation, sodium-coupled transport of various organic and inorganic molecules and electrical excitability of nerve and muscle.
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Porcine chromosome SSC 4p13 contains a synteny group, with F13B, ATP1B1, GBA, ATP1A1, IVL, and two microsatellites S0001, S0067 (Andersson et al.
Michael Stowasser: The identification of these KCNJ5, ATP1A1, ATP2B3, and CACNA1D mutations has greatly enhanced knowledge regarding the roles of these channels in adrenal physiology and pathophysiology and has the potential to lead to new diagnostic and therapeutic strategies.
10] Human genes: KCNJ5, potassium inwardly-rectifying channel subfamily J member 5; ATP1A1, sodium/potassium-transporting ATPase subunit alpha-1; ATP2B3, plasma membrane calcium-transporting ATPase 3; CACNA1D, voltage-dependent calcium channel type L alpha 1D subunit.
30) Exon sequencing of the latter group identified somatic mutations in either ATP1A1 or CACNA1D, which could suggest a common subtype of aldosterone-producing adenoma.
Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.
Cattle Multiple breeds Linear regression PLA2G5, ATP1A1, (1,500) DAG1 Belgian Blue (26) Case-control ATPA2A1 (ASSHOM/ASSIST) Belgian Blue (31) Case-control SLC6A5 (ASSHOM/ASSIST) Italian Chianina Case-control ABCA12 (12) (ASSHOM/ASSIST) Holstein cows Case-control (Plink) EDN2, SOD1, (245) PARP1 etc Black/Red Angus Case-control (Plink) MC1R (76) Holstein bulls Linear regression/ DGAT1, ABCG2, (5,360) Bayesian methods Integrin jj2 etc.