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ATP1A3
HPA
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  • ATP1A3
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

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.

ATP1A3
Synonyms DYT12
Gene descriptioni

Full gene name according to HGNC.

ATPase Na+/K+ transporting subunit alpha 3
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Enzymes
Human disease related genes
Metabolic 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.

Membrane, Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

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 19
Cytoband q13.2
Chromosome location (bp) 41966582 - 41997497
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

6
Ensembl ENSG00000105409 (version 109)
Entrez gene 478
HGNC HGNC:801
UniProt P13637 (UniProt - Evidence at protein level)
neXtProt NX_P13637
GeneCards ATP1A3
Antibodypedia ATP1A3 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

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 ions, 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.

ATP-binding, Magnesium, Metal-binding, Nucleotide-binding, Potassium, Sodium
Gene summary (Entrez)i

Useful information about the gene from Entrez

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 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]... 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 Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
ATP1A3-204
ENSP00000469129
ENST00000473086
M0QXF2
[Direct mapping] Sodium/potassium-transporting ATPase subunit alpha-3
Show all
Metabolic proteins
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
   2TM proteins predicted by MDM
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Nervous system diseases
   Epilepsy
   Other nervous and sensory system diseases
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0000166 [nucleotide binding]
GO:0005215 [transporter activity]
GO:0005524 [ATP binding]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016887 [ATP hydrolysis activity]
GO:0034220 [ion transmembrane transport]
Show all
251 aa
27.3 kDa
No 2
ATP1A3-206
ENSP00000437577
ENST00000543770
P13637
[Direct mapping] Sodium/potassium-transporting ATPase subunit alpha-3
Show all
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
Disease related genes
Potential drug targets
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   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)
   DeepTMHMM predicted membrane proteins
Show all
GO:0000166 [nucleotide binding]
GO:0001540 [amyloid-beta binding]
GO:0001917 [photoreceptor inner segment]
GO:0005215 [transporter activity]
GO:0005391 [P-type sodium:potassium-exchanging transporter activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005783 [endoplasmic reticulum]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0005890 [sodium:potassium-exchanging ATPase complex]
GO:0006811 [ion transport]
GO:0006813 [potassium ion transport]
GO:0006814 [sodium ion transport]
GO:0006883 [cellular sodium ion homeostasis]
GO:0008556 [P-type potassium transmembrane transporter activity]
GO:0010248 [establishment or maintenance of transmembrane electrochemical gradient]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016887 [ATP hydrolysis activity]
GO:0019829 [ATPase-coupled cation transmembrane transporter activity]
GO:0030007 [cellular potassium ion homeostasis]
GO:0030424 [axon]
GO:0031090 [organelle membrane]
GO:0032809 [neuronal cell body membrane]
GO:0034220 [ion transmembrane transport]
GO:0036376 [sodium ion export across plasma membrane]
GO:0043025 [neuronal cell body]
GO:0045202 [synapse]
GO:0046872 [metal ion binding]
GO:0051087 [chaperone binding]
GO:0060075 [regulation of resting membrane potential]
GO:0060342 [photoreceptor inner segment membrane]
GO:0071383 [cellular response to steroid hormone stimulus]
GO:0086064 [cell communication by electrical coupling involved in cardiac conduction]
GO:0098984 [neuron to neuron synapse]
GO:1902600 [proton transmembrane transport]
GO:1903416 [response to glycoside]
GO:1903561 [extracellular vesicle]
GO:1904646 [cellular response to amyloid-beta]
GO:1990239 [steroid hormone binding]
GO:1990535 [neuron projection maintenance]
GO:1990573 [potassium ion import across plasma membrane]
Show all
1024 aa
113.1 kDa
No >9
ATP1A3-207
ENSP00000444688
ENST00000545399
P13637
[Direct mapping] Sodium/potassium-transporting ATPase subunit alpha-3
Show all
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
Disease related genes
Potential drug targets
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   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)
   DeepTMHMM predicted membrane proteins
Show all
GO:0000166 [nucleotide binding]
GO:0001540 [amyloid-beta binding]
GO:0001917 [photoreceptor inner segment]
GO:0005215 [transporter activity]
GO:0005391 [P-type sodium:potassium-exchanging transporter activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005783 [endoplasmic reticulum]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0005890 [sodium:potassium-exchanging ATPase complex]
GO:0006811 [ion transport]
GO:0006813 [potassium ion transport]
GO:0006814 [sodium ion transport]
GO:0006883 [cellular sodium ion homeostasis]
GO:0008556 [P-type potassium transmembrane transporter activity]
GO:0010248 [establishment or maintenance of transmembrane electrochemical gradient]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016887 [ATP hydrolysis activity]
GO:0019829 [ATPase-coupled cation transmembrane transporter activity]
GO:0030007 [cellular potassium ion homeostasis]
GO:0030424 [axon]
GO:0031090 [organelle membrane]
GO:0032809 [neuronal cell body membrane]
GO:0034220 [ion transmembrane transport]
GO:0036376 [sodium ion export across plasma membrane]
GO:0043025 [neuronal cell body]
GO:0045202 [synapse]
GO:0046872 [metal ion binding]
GO:0051087 [chaperone binding]
GO:0060075 [regulation of resting membrane potential]
GO:0060342 [photoreceptor inner segment membrane]
GO:0071383 [cellular response to steroid hormone stimulus]
GO:0086064 [cell communication by electrical coupling involved in cardiac conduction]
GO:0098984 [neuron to neuron synapse]
GO:1902600 [proton transmembrane transport]
GO:1903416 [response to glycoside]
GO:1903561 [extracellular vesicle]
GO:1904646 [cellular response to amyloid-beta]
GO:1990239 [steroid hormone binding]
GO:1990535 [neuron projection maintenance]
GO:1990573 [potassium ion import across plasma membrane]
Show all
1026 aa
113.1 kDa
No >9
ATP1A3-208
ENSP00000471581
ENST00000602133
M0R116
[Direct mapping] Sodium/potassium-transporting ATPase subunit alpha
Show all
Metabolic proteins
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
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Nervous system diseases
   Epilepsy
   Other nervous and sensory system diseases
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0000166 [nucleotide binding]
GO:0005215 [transporter activity]
GO:0005524 [ATP binding]
GO:0005886 [plasma membrane]
GO:0006811 [ion transport]
GO:0006813 [potassium ion transport]
GO:0008556 [P-type potassium transmembrane transporter activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016887 [ATP hydrolysis activity]
GO:0034220 [ion transmembrane transport]
GO:0046872 [metal ion binding]
GO:0071805 [potassium ion transmembrane transport]
Show all
983 aa
108.3 kDa
No >9
ATP1A3-209
ENSP00000489877
ENST00000636197
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   Nervous system diseases
   Epilepsy
   Other nervous and sensory system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
1 aa
0.1 kDa
No 0
ATP1A3-214
ENSP00000498113
ENST00000648268
P13637
[Direct mapping] Sodium/potassium-transporting ATPase subunit alpha-3
Show all
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
Disease related genes
Potential drug targets
Human disease related genes
   Congenital malformations
   Congenital malformations of the nervous system
   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)
   DeepTMHMM predicted membrane proteins
Show all
GO:0000166 [nucleotide binding]
GO:0001540 [amyloid-beta binding]
GO:0001917 [photoreceptor inner segment]
GO:0005215 [transporter activity]
GO:0005391 [P-type sodium:potassium-exchanging transporter activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005783 [endoplasmic reticulum]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0005890 [sodium:potassium-exchanging ATPase complex]
GO:0006811 [ion transport]
GO:0006813 [potassium ion transport]
GO:0006814 [sodium ion transport]
GO:0006883 [cellular sodium ion homeostasis]
GO:0008556 [P-type potassium transmembrane transporter activity]
GO:0010248 [establishment or maintenance of transmembrane electrochemical gradient]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016887 [ATP hydrolysis activity]
GO:0019829 [ATPase-coupled cation transmembrane transporter activity]
GO:0021987 [cerebral cortex development]
GO:0030007 [cellular potassium ion homeostasis]
GO:0030424 [axon]
GO:0031090 [organelle membrane]
GO:0031748 [D1 dopamine receptor binding]
GO:0032809 [neuronal cell body membrane]
GO:0034220 [ion transmembrane transport]
GO:0036376 [sodium ion export across plasma membrane]
GO:0042734 [presynaptic membrane]
GO:0043025 [neuronal cell body]
GO:0043209 [myelin sheath]
GO:0044305 [calyx of Held]
GO:0044326 [dendritic spine neck]
GO:0044327 [dendritic spine head]
GO:0045202 [synapse]
GO:0046872 [metal ion binding]
GO:0051087 [chaperone binding]
GO:0060075 [regulation of resting membrane potential]
GO:0060342 [photoreceptor inner segment membrane]
GO:0071300 [cellular response to retinoic acid]
GO:0071383 [cellular response to steroid hormone stimulus]
GO:0086064 [cell communication by electrical coupling involved in cardiac conduction]
GO:0097067 [cellular response to thyroid hormone stimulus]
GO:0098794 [postsynapse]
GO:0098984 [neuron to neuron synapse]
GO:1902600 [proton transmembrane transport]
GO:1903416 [response to glycoside]
GO:1903561 [extracellular vesicle]
GO:1904646 [cellular response to amyloid-beta]
GO:1990239 [steroid hormone binding]
GO:1990535 [neuron projection maintenance]
GO:1990573 [potassium ion import across plasma membrane]
Show all
1013 aa
111.7 kDa
No >9

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