ATPase Na+/K+ transporting subunit alpha 1
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary neuropathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary neuropathy or pain disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownRenal tubulopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCharcot-Marie-tooth disease, axonal, type 2DD
hypomagnesemia, seizures, and intellectual disability 2
atrial fibrillation
congestive heart failure
heart failure
cardiovascular disorder
aldosterone-producing adrenal cortex adenoma
Intellectual disability
neurodegenerative disease
Arrhythmia
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Sodium/potassium-transporting ATPase subunit alpha-1
Catalytic subunit of the Na(+)/K(+)-ATPase pump that hydrolyzes ATP to exchange ions across the plasma membrane, exporting 3 Na(+) and importing 2 K(+) per cycle against electrochemical gradients (PubMed:29499166, PubMed:30388404, PubMed:35803952). It undergoes ATP-driven conformational changes that allow alternating binding and release of Na(+) and K(+) ions across the membrane (PubMed:35803952). This process maintains essential Na(+) and K(+) gradients for membrane potential and cellular function. Could also be part of an osmosensory signaling pathway that senses body-fluid sodium levels and controls salt intake behavior as well as voluntary water intake to regulate sodium homeostasis (By similarity)
Curated MONDO disease pages that list ATP1A1 among their top associated genes.
ATP1A1 · P05023
Mean pLDDT
88.7/ 100
Confident
1,023 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
