ATP1A1 Gene Summary [Human]
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Details
| Type | Protein Coding |
| Official Symbol | ATP1A1 |
| Official Name | ATPase Na+/K+ transporting subunit alpha 1 [Source:HGNC Symbol;Acc:HGNC:799] |
| Ensembl ID | ENSG00000163399 |
| Bio databases IDs | |
| Aliases | ATPase Na+/K+ transporting subunit alpha 1, sodium/potassium-transporting ATPase subunit alpha-1, sodium pump subunit alpha-1, sodium-potassium ATPase catalytic subunit alpha-1 |
| Synonyms | ATP1A1 isoform 1, Atpa-1, ATPase, Na+/K+ transporting, alpha 1 polypeptide, ATPase Na+/K+ transporting subunit alpha 1, ATPase Na+/K+ transporting subunit α 1, ATPase, Na+/K+ transporting, α 1 polypeptide, CMT2DD, F1 ATPase alpha, F1 ATPase α, HOMGSMR2, Lactate dehydrogenase 1, a chain, Na/K atpase alpha 1, Na/K atpase alpha 3, Na/K atpase α 1, Na/K atpase α 3, Na,K-ATPase α subunit 1, Na K α 1, Nkaa1b, NKA alpha 1, NKA alpha 1 subunit, NKA α 1, NKA α 1 subunit |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ATP1A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Cation transporter/ATPase, N-terminus
- sarco/endoplasmic reticulum calcium-translocating P-type ATPase
- ADP binding
- ATP binding
- heavy metal translocating P-type ATPase
- E1-E2 ATPase
- plasma-membrane proton-efflux P-type ATPase
- copper-(or silver)-translocating P-type ATPase
- ATPase
- plasma-membrane calcium-translocating P-type ATPase
- ankyrin binding
- cytoplasmic domain
- ion channel binding
- phosphatase
- extracellular loop
- Na,H/K antiporter P-type ATPase alpha subunit
- K+-transporting ATPase
- potassium and/or sodium efflux P-type ATPase, fungal-type
- chaperone binding
- Cation transport ATPase (P-type)
- haloacid dehalogenase-like hydrolase
- Cation transporting ATPase, C-terminus
- extracellular domain
- hormone binding
- protein kinase binding
- heavy metal-(Cd/Co/Hg/Pb/Zn)-translocating P-type ATPase
- golgi membrane calcium-translocating P-type ATPase
- metal ion binding
- Na+/K+-exchanging ATPase
- protein domain specific binding
- protein binding
- ATPase, P-type (transporting), HAD superfamily, subfamily IC
- steroid binding
- ATPase binding
- phosphoinositide 3-kinase binding
- cytoplasmic loop
- transmembrane domain
- cytosolic tail domain
- Haloacid Dehalogenase-like Hydrolases
- protein heterodimerization
- transporter
Pathways
Biological processes and signaling networks where the ATP1A1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- edema
- infection
- schizophrenia
- depressive disorder
- anxiety disorder
- dementia
- insulin resistance
- kidney disease
- Alzheimer disease
- tinea cruris
role in cell
- activation in
- phosphorylation in
- expression in
- depolarization
- apoptosis
- cell death
- accumulation in
- activation
- fusion
- hyperexcitability
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- plasma membrane fraction
- myelin enriched fraction
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- cell surface
- apical compartment
- intracellular membranes
- cellular membrane
- Nucleus
- endosomes
- sarcoplasmic reticulum
- Golgi Apparatus
- Endoplasmic Reticulum
- costameres
- intercellular junctions
- apical cell surfaces
- microsome
- apical membrane
- caveolae
- basolateral membrane
- lateral plasma membrane
- sperm tail
- growth cone
- synaptosomes
- synapse
- photoreceptor inner segments
- sarcolemma
- perinuclear vesicles
- cytoplasmic vesicles
- transverse tubules
- microsomal membrane
- membrane rafts
- membrane processes
- perikaryon
- dendrites
- postsynaptic density
- exosomes
- clathrin-coated vesicles
- sensory axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ATP1A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- membrane repolarization involved in regulation of cardiac muscle cell action potential
- regulation of cardiac muscle cell action potential involved in contraction
- osmosensory signaling pathway
- cellular sodium ion homeostasis
- membrane repolarization
- response to xenobiotic stimulus
- positive regulation of heart contraction
- positive regulation of striated muscle contraction
- regulation of blood pressure
- negative regulation of heart contraction
- regulation of the force of heart contraction
- cellular response to steroid hormone stimulus
- cellular potassium ion homeostasis
- regulation of sodium ion transport
- negative regulation of glucocorticoid biosynthetic process
- establishment or maintenance of transmembrane electrochemical gradient
- cell communication by electrical coupling involved in cardiac conduction
- relaxation of cardiac muscle
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- photoreceptor inner segment membrane
- lateral plasma membrane
- sodium:potassium-exchanging ATPase complex
- Golgi apparatus
- endoplasmic reticulum
- organelle membrane
- plasma membrane
- T-tubule
- extracellular vesicular exosome
- melanosome
- sarcolemma
- membrane raft
- membrane
- macromolecular complex
- sperm flagellum
- basolateral plasma membrane
- apical plasma membrane
- axon
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- protein binding
- potassium ion binding
- sodium:potassium-exchanging ATPase activity
- protein heterodimerization activity
- chaperone binding
- phosphatase activity
- sodium ion binding
- ion channel binding