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ATP1A2
This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients. Defects in ATP1A2 are the cause of familial hemiplegic migraine type 2 (FHM2). FHM2 is a rare, severe, autosomal dominant subtype of migraine characterized by aura and some hemiparesis. Defects in ATP1A2 are a cause of alternating hemiplegia of childhood 1 (AHC1). AHC is typically distinguished from familial hemiplegic migraine by infantile onset of the symptoms and high prevalence of associated neurological deficits that become increasingly obvious with age. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. Note: This description may include information from UniProtKB.
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| Protein type: EC 3.6.3.9; Hydrolase; Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ion channel |
| Chromosomal Location of Human Ortholog: 1q23.2 |
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Cellular Component: cytoplasm; membrane; plasma membrane; sodium:potassium-exchanging ATPase complex
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Molecular Function: ATP binding; ATPase activity; chaperone binding; drug binding; potassium ion binding; protein binding; sodium ion binding; sodium:potassium-exchanging ATPase activity
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Biological Process: ATP metabolic process; cardiac muscle contraction; cellular potassium ion homeostasis; cellular sodium ion homeostasis; potassium ion import
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Disease: Alternating Hemiplegia Of Childhood 1; Migraine, Familial Hemiplegic, 2
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Reference #:
P50993
(UniProtKB)
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Alt. Names/Synonyms: AT1A2; ATP1A2; ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide; ATPase, Na+/K+ transporting, alpha 2 polypeptide; FHM2; KIAA0778; MGC59864; MHP2; Na(+)/K(+) ATPase alpha-2 subunit; Na+/K+ ATPase, alpha-A(+) catalytic polypeptide; Na+/K+ ATPase, alpha-B polypeptide; Sodium pump subunit alpha-2; sodium-potassium ATPase; sodium/potassium-transporting ATPase alpha-2 chain; Sodium/potassium-transporting ATPase subunit alpha-2
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Gene Symbols: ATP1A2
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Molecular weight:
112,265 Da
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Basal Isoelectric point:
5.47
Predict pI for various phosphorylation states
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