Disease relevance of ATP1A1

• Furthermore, interaction with either ATP1A1 or NKCC2 was not detected in both the rat F2 intercross and human hypertension cohorts [1].
• We thus suggested that the presence of the variant of the ATP1A1 gene is a predisposing factor for diabetic neuropathy, with a 6.5% relative risk [2].
• Sodium pump numbers and cation transport of lymphocytes in pregnancy-induced hypertension [3].
• CONCLUSION: Sodium pump alpha3-isoform protein levels decreased in uterus before term labor and lipopolysaccharide-induced preterm labor [4].

High impact information on ATP1A1

• Na,K-ATPase alpha 1 subunit gene (ATP1A1) is one of the housekeeping genes involved in homeostasis of Na+ and K+ in all animal cells [5].
• Sodium pump activity and Na+/H+ exchange were measured in erythrocytes from 49 cancer patients and 51 healthy subjects [6].
• IDDM patients bearing the ATP1 A1 variant detected by Bgl II RFLP are much more frequently affected by neuropathy (relative risk 6.5, with 95% CI 3.3-13) [7].
• We have determined the sequence of the 5'-flanking region and first three exons of the human Na,K-ATPase alpha 1 gene, ATP1A1 [8].
• The results obtained have allowed us to assign the loci for the ubiquitously expressed alpha-chain (ATP1A1) to human chromosome 1, region 1p21----cen, and for the alpha 2 isoform that predominates in neural and muscle tissues (ATP1A2) to chromosome 1, region cen----q32 [9].

Biological context of ATP1A1

• Putative ATP1A1-NKCC2 gene interaction was tested by comparing hypertensive patients (blood pressure [BP] >165/95 mm Hg) with normotensive controls age >60 years with BP <140/85 mm Hg [10].
• Genotype analysis with microsatellite markers revealed conformation to Hardy-Weinberg proportions for 6 alleles of both ATP1A1 (D1S453) and NKCC2 (NKCGT7) markers, respectively [10].
• We previously showed that a restriction fragment length polymorphism (RFLP) of the ATP1-A1 gene encoding for the Na/K ATPase's alpha 1 isoform is associated with a low Na/K ATPase activity in the red blood cells (RBCs) of type 1 diabetic patients [2].
• Sodium pump reduction correlates with aortic clamp time in pediatric heart surgery [11].
• Sodium pump activity, the number of ouabain binding sites, and the rate constant for SLC increased [12].

Anatomical context of ATP1A1

• The alpha-1 isoform of the enzyme predominant in red blood cells and nerve tissue is encoded by the ATP1A1 gene [13].
• Sodium pump molecular activity was only moderately elevated in tissues of the octopus compared to the bearded dragon, despite the much greater level of polyunsaturation in octopus membranes [14].
• Sodium pump stimulation by oxytocin and cyclic AMP in the isolated epithelium of the frog skin [15].
• Sodium pump and carbonic anhydrase activity have been described in the salivary glands [16].

Associations of ATP1A1 with chemical compounds

• Sodium pump rates were significantly correlated with sodium/creatinine (r = 0.21, p less than 0.05) and sodium/potassium (r = 0.32, p less than 0.01) in casual urine [17].
• Sodium pump activity and contractile effect of ouabain in human placental veins [18].
• Sodium pump activation by 5-hydroxytryptamine in human placental veins [19].
• Sodium pump and steroid hormone receptor. Na(+)/K(+)-ATPase [20].
• 1. Sodium pump function has been assessed by measurement of ouabain-sensitive 86Rb uptake in human erythrocytes after incorporation of palmitic, stearic, oleic and linoleic acids into the erythrocyte membrane [21].

Other interactions of ATP1A1

• Sodium pump and calcium channel modulation of Mg-deficiency cardiomyopathy [22].

Analytical, diagnostic and therapeutic context of ATP1A1

• Sodium pump isoforms in xenotransplantation: importance of biochemical compatibility [23].

References