ATP1A3

Chr 19q13.2

ATPase Na+/K+ transporting subunit alpha 3

MANE:: ENST00000648268.1

OMIM: 182350 ↗NCBI: 478 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

ATP1A3 · P13637

v62025-08-01

Predicted Aligned Error matrix for ATP1A3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.8/ 100

Confident

1,013 residues

Confidence breakdown

Very high(≥ 90)62%
Confident(70–90)34%
Low(50–70)3%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Auditory Neuropathy Spectrum Disorde
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain channelopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset dystonia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

alternating hemiplegia of childhood 2
0.84
dystonia 12
0.82
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
0.79
developmental and epileptic encephalopathy 99
0.77
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
0.76
alternating hemiplegia of childhood
0.73
Rapid-onset dystonia-parkinsonism
0.69
ATP1A3-associated neurological disorder
0.60
congestive heart failure
0.60
atrial fibrillation
0.59

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Sodium/potassium-transporting ATPase subunit alpha-3

Neuron-specific alpha catalytic component of the Na(+)/K(+)-transporting ATPase, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane (PubMed:36075933). Transports 3 Na(+) ions out of the cell and 2 K(+) ions into the cell for each ATP hydrolyze against their electrochemical gradients to maintain ion concentration gradients across the membranes (By similarity). In the brain, ATP1A3 is critical for neuronal cell signaling and for maintenance of electrochemical stability, enabling cell excitation and action potential propagation (PubMed:33880529, PubMed:36075933)