ATP1A1 (P05023) variants and mutations

ATP1A1 (also known as P05023) is a human protein-coding gene encoding a sodium/potassium-transporting ATPase subunit alpha-1 protein. It maintains sodium and potassium gradients that underlie membrane potential, secondary transport, and cell-volume control in most tissues. Germline pathogenic variants can cause neurologic or electrolyte disorders, while somatic adrenal variants can drive primary aldosteronism. This analysis covers 936 ATP1A1 variants and mutations. Of these, 52% have computational variant effect predictions. Disease context includes Charcot-Marie-tooth disease, axonal, type 2DD, hypomagnesemia, seizures, and intellectual disability 2, and atrial fibrillation. Example ATP1A1 variants include G2W, G2R, and G2V.

Variant analysis overview

Gene: ATP1A1
Protein: P05023
UniProt accession: P05023
Organism: Homo sapiens
Variants analyzed: 936
Variant scope: all variants
Completed: 2026-08-14

Variant and mutation evidence

Variant composition: 823 unspecified-consequence records; 53 missense variants; 47 synonymous variants; 3 splice-region variants; 2 stop-gained variants; 2 in-frame deletions; 5 frameshift variants; 1 substitution
Prediction scores: 491 variants have prediction scores (52% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: Charcot-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, familial primary hypomagnesemia, Hypomagnesemia.

Protein structure and variant hotspots

Protein features: 10 transmembrane segments; 32 binding sites; 15 post-translational modification sites.
Structural context: 185 variants have structural context.
PTM context: 29 variants overlap post-translational modification sites.

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable ATP1A1 variants

Examples include G2W, G2R, G2V, G2E, G2G, K3R, K3T, K3E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

ATP1A1 analysis run — ATP1A1 (936 variants) — completed 2026-08-14