The ATP1A1 gene encodes the alpha-1 (α1) subunit of the Na⁺/K⁺-ATPase, a fundamental membrane protein pump that maintains the electrochemical gradients essential for cellular function. This ubiquitous enzyme is critical for neuronal excitability, secondary active transport, and cell volume regulation. In the brain, ATP1A1 plays a vital role in maintaining resting membrane potential and supporting neurotransmitter reuptake. Dysregulation of ATP1A1 has been implicated in various neurological disorders including stroke, epilepsy, and neurodegenerative diseases.
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| Symbol | ATP1A1 |
| Full Name | ATPase Na+/K+ Transporting Subunit Alpha 1 |
| Chromosome | 1p13.1 |
| NCBI Gene | 476 |
| OMIM | 182340 |
| Ensembl | ENSG00000163399 |
| UniProt | P05023 |
| Associated Diseases | Stroke, neurodegeneration |
ATP1A1 encodes the alpha-1 subunit of Na+/K+ ATPase. Essential for maintaining ionic gradients and neuronal excitability.
Widely expressed.