We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Metabolic proteins Plasma proteins Potential drug targets Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
1
Cytoband
q23.2
Chromosome location (bp)
160115759 - 160143591
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Translocase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Ion transport, Potassium transport, Sodium transport, Sodium/potassium transport, Transport
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
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 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Enzymes ENZYME proteins Metabolic proteins Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Human disease related genes Nervous system diseases Epilepsy Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0001504[neurotransmitter uptake] GO:0001662[behavioral fear response] GO:0002026[regulation of the force of heart contraction] GO:0002087[regulation of respiratory gaseous exchange by nervous system process] GO:0005215[transporter activity] GO:0005391[P-type sodium:potassium-exchanging transporter activity] GO:0005496[steroid binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005886[plasma membrane] GO:0005890[sodium:potassium-exchanging ATPase complex] GO:0005901[caveola] GO:0006811[ion transport] GO:0006813[potassium ion transport] GO:0006814[sodium ion transport] GO:0006883[cellular sodium ion homeostasis] GO:0006937[regulation of muscle contraction] GO:0006940[regulation of smooth muscle contraction] GO:0006942[regulation of striated muscle contraction] GO:0008217[regulation of blood pressure] GO:0008344[adult locomotory behavior] GO:0008542[visual learning] GO:0008556[P-type potassium transmembrane transporter activity] GO:0010248[establishment or maintenance of transmembrane electrochemical gradient] GO:0010881[regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion] GO:0010996[response to auditory stimulus] GO:0014704[intercalated disc] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016791[phosphatase activity] GO:0016887[ATP hydrolysis activity] GO:0019229[regulation of vasoconstriction] GO:0019829[ATPase-coupled cation transmembrane transporter activity] GO:0021764[amygdala development] GO:0021989[olfactory cortex development] GO:0030007[cellular potassium ion homeostasis] GO:0030315[T-tubule] GO:0030955[potassium ion binding] GO:0031090[organelle membrane] GO:0031402[sodium ion binding] GO:0034220[ion transmembrane transport] GO:0035094[response to nicotine] GO:0035641[locomotory exploration behavior] GO:0035725[sodium ion transmembrane transport] GO:0036376[sodium ion export across plasma membrane] GO:0040011[locomotion] GO:0042383[sarcolemma] GO:0042995[cell projection] GO:0043005[neuron projection] GO:0043025[neuronal cell body] GO:0043197[dendritic spine] GO:0045202[synapse] GO:0045822[negative regulation of heart contraction] GO:0045823[positive regulation of heart contraction] GO:0045988[negative regulation of striated muscle contraction] GO:0046034[ATP metabolic process] GO:0046872[metal ion binding] GO:0046982[protein heterodimerization activity] GO:0051087[chaperone binding] GO:0051481[negative regulation of cytosolic calcium ion concentration] GO:0051946[regulation of glutamate uptake involved in transmission of nerve impulse] GO:0051966[regulation of synaptic transmission, glutamatergic] GO:0055119[relaxation of cardiac muscle] GO:0060048[cardiac muscle contraction] GO:0071260[cellular response to mechanical stimulus] GO:0071383[cellular response to steroid hormone stimulus] GO:0071805[potassium ion transmembrane transport] GO:0086004[regulation of cardiac muscle cell contraction] GO:0086009[membrane repolarization] GO:0086012[membrane depolarization during cardiac muscle cell action potential] GO:0086064[cell communication by electrical coupling involved in cardiac conduction] GO:0098655[cation transmembrane transport] GO:0150104[transport across blood-brain barrier] GO:1902600[proton transmembrane transport] GO:1903170[negative regulation of calcium ion transmembrane transport] GO:1903280[negative regulation of calcium:sodium antiporter activity] GO:1903416[response to glycoside] GO:1903561[extracellular vesicle] GO:1990239[steroid hormone binding] GO:1990573[potassium ion import across plasma membrane]