Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp1a3provided by MGI
Official Full Name: ATPase, Na+/K+ transporting, alpha 3 polypeptideprovided by MGI
Primary source: MGI:MGI:88107
See related: Ensembl:ENSMUSG00000040907 AllianceGenome:MGI:88107
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Atpa-2
Summary: Enables P-type sodium:potassium-exchanging transporter activity involved in regulation of cardiac muscle cell membrane potential and heparan sulfate proteoglycan binding activity. Involved in several processes, including intracellular sodium ion homeostasis; regulation of cardiac muscle cell membrane potential; and sodium ion export across plasma membrane. Acts upstream of or within several processes, including intracellular signaling cassette; learning or memory; and nervous system development. Located in several cellular components, including neuron to neuron synapse; photoreceptor inner segment; and sarcolemma. Part of sodium:potassium-exchanging ATPase complex. Is active in cell surface. Is expressed in several structures, including alimentary system; early conceptus; gonad; heart; and nervous system. Used to study alternating hemiplegia of childhood and bipolar disorder. Human ortholog(s) of this gene implicated in alternating hemiplegia of childhood; bipolar disorder; developmental and epileptic encephalopathy 99; dystonia 12; and epilepsy. Orthologous to human ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in cerebellum adult (RPKM 340.9), frontal lobe adult (RPKM 257.5) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 A3; 7 13.73 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (24677592..24705338, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (24978167..25006077, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotype Distinctions in Mice Deficient in the Neuron-Specific alpha3 Subunit of Na,K-ATPase: Atp1a3[tm1Ling/+] and Atp1a3 [+/D801Y].
Title: Phenotype Distinctions in Mice Deficient in the Neuron-Specific α3 Subunit of Na,K-ATPase: Atp1a3(tm1Ling/+) and Atp1a3 (+/D801Y).
ATP1A3 regulates protein synthesis for mitochondrial stability under heat stress.
Title: ATP1A3 regulates protein synthesis for mitochondrial stability under heat stress.
Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3(Mashl/+), Mouse Model of Alternating Hemiplegia of Childhood.
Title: Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3(Mashl/+), Mouse Model of Alternating Hemiplegia of Childhood.
Decreased content of ascorbic acid (vitamin C) in the brain of knockout mouse models of Na+,K+-ATPase-related neurologic disorders.
Title: Decreased content of ascorbic acid (vitamin C) in the brain of knockout mouse models of Na+,K+-ATPase-related neurologic disorders.
ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy.
Title: ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy.
Na(+)/K(+)-ATPase alpha3 does not reside within the core circadian molecular clockwork, but Myk/+ mice exhibit concomitant disruption in circadian rhythms and mood. The Myshkin model demonstrates profound circadian and light-responsive behavioral alterations independent of molecular clock disruption.
Title: Circadian Disruptions in the Myshkin Mouse Model of Mania Are Independent of Deficits in Suprachiasmatic Molecular Clock Function.
The animal model containing a E815K mutation in ATP1A3, manifests clinical and neurophysiological features of the most severe form of alternating hemiplegia of childhood.
Title: Novel E815K knock-in mouse model of alternating hemiplegia of childhood.
the neuronal specific alpha3 (alpha3)-subunit of the plasma membrane enzyme Na, K-ATPase (NKA) is a new binding partner of sAPPalpha.
Title: Soluble Amyloid Precursor Protein Alpha Interacts with alpha3-Na, K-ATPAse to Induce Axonal Outgrowth but Not Neuroprotection: Evidence for Distinct Mechanisms Underlying these Properties.
A heterozygous knock-in mouse harboring the D801Y mutation in ATP1A3 was generated. This mice displayed hyperactivity, increased sensitivity to chemically induced epileptic seizures and cognitive deficits. The findings reveal the functional significance of ATP1A3 gene in the control of spatial learning and memory and suggest a link to GABA transmission.
Title: Cognitive deficits caused by a disease-mutation in the α3 Na(+)/K(+)-ATPase isoform.
Knockout of sodium pump alpha3 subunit gene (Atp1a3(-/-)) results in perinatal seizure and defective respiratory rhythm generation
Title: Knockout of sodium pump α3 subunit gene (Atp1a3(-/-)) results in perinatal seizure and defective respiratory rhythm generation.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (4)
Targeted (11) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:480319 (e-PCR)
- UniSTS:480319

Atp1a3 (e-PCR), detects polymorphism
- UniSTS:480319

Atp1a3 (e-PCR), detects polymorphism
- UniSTS:480320

Atp1a3 (e-PCR), detects polymorphism
- UniSTS:546666

RH94467 (e-PCR)
- UniSTS:119715

D1Bda7 (e-PCR)
- UniSTS:240341

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables D1 dopamine receptor binding	ISO Inferred from Sequence Orthology more info
enables P-type sodium:potassium-exchanging transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables P-type sodium:potassium-exchanging transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables P-type sodium:potassium-exchanging transporter activity	ISO Inferred from Sequence Orthology more info
enables P-type sodium:potassium-exchanging transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables P-type sodium:potassium-exchanging transporter activity involved in regulation of cardiac muscle cell membrane potential	IGI Inferred from Genetic Interaction more info	PubMed
enables amyloid-beta binding	ISO Inferred from Sequence Orthology more info
enables heparan sulfate proteoglycan binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein-folding chaperone binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within L-ascorbic acid metabolic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within L-ascorbic acid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within adult locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within behavior	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood circulation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within brain-derived neurotrophic factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within calcium-mediated signaling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within carboxylic acid transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle contraction	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to amyloid-beta	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cerebral cortex development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within circadian rhythm	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cognition	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of adult lifespan	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment or maintenance of transmembrane electrochemical gradient	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within fear response	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within fear response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gamma-aminobutyric acid signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within habituation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular potassium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular potassium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular sodium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular sodium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular sodium ion homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within ionotropic glutamate receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within learning	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within locomotion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within membrane depolarization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within memory	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within motor behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neurogenesis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process controlling balance	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within neuromuscular process controlling balance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection maintenance	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pore complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in potassium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion import across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transport	ISO Inferred from Sequence Orthology more info
involved_in proton transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cardiac muscle cell membrane potential	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of short-term neuronal synaptic plasticity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to acid chemical	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to chemical	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to electrical stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to environmental enrichment	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to hormone	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to immobilization stress	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to lithium ion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to methamphetamine hydrochloride	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to monoamine	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to potassium ion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to stress	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to temperature stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sleep	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within social behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion export across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion export across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium ion export across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in sodium ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within thalamus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within transmission of nerve impulse	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual learning	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within visual learning	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within walking behavior	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in axon	ISO Inferred from Sequence Orthology more info
is_active_in calyx of Held	ISO Inferred from Sequence Orthology more info
is_active_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in dendritic spine head	ISO Inferred from Sequence Orthology more info
located_in dendritic spine neck	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in myelin sheath	HDA more info	PubMed
located_in myelin sheath	ISO Inferred from Sequence Orthology more info
located_in neuron to neuron synapse	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in organelle membrane	ISO Inferred from Sequence Orthology more info
located_in photoreceptor inner segment	IDA Inferred from Direct Assay more info	PubMed
NOT located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in postsynapse	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic membrane	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed
part_of sodium:potassium-exchanging ATPase complex	IDA Inferred from Direct Assay more info	PubMed
part_of sodium:potassium-exchanging ATPase complex	ISO Inferred from Sequence Orthology more info
located_in synapse	ISO Inferred from Sequence Orthology more info
located_in synapse	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: sodium/potassium-transporting ATPase subunit alpha-3

Names: Na(+)/K(+) ATPase alpha(III) subunit; Na(+)/K(+) ATPase alpha-3 subunit; sodium pump subunit alpha-3

NP_001277398.1

EC 7.2.2.13

NP_001361556.1

EC 7.2.2.13

NP_001407721.1

EC 7.2.2.13

NP_001407722.1

EC 7.2.2.13

NP_001407723.1

EC 7.2.2.13

NP_001407724.1

EC 7.2.2.13

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001290469.2 → NP_001277398.1 sodium/potassium-transporting ATPase subunit alpha-3 isoform 2

See identical proteins and their annotated locations for NP_001277398.1

Status: VALIDATED

Source sequence(s)

AC125468

Consensus CDS

CCDS20969.2

UniProtKB/Swiss-Prot

Q6PIC6

Related

ENSMUSP00000079691.7, ENSMUST00000080882.11

Conserved Domains (1) summary

TIGR01106
Location:18 → 1013

ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
NM_001374627.1 → NP_001361556.1 sodium/potassium-transporting ATPase subunit alpha-3 isoform 1

Status: VALIDATED

Source sequence(s)

AC125468

Consensus CDS

CCDS90184.1

UniProtKB/TrEMBL

A0A0G2JGX4

Related

ENSMUSP00000143735.2, ENSMUST00000196684.2

Conserved Domains (1) summary

TIGR01106
Location:31 → 1026

ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
NM_001420792.1 → NP_001407721.1 sodium/potassium-transporting ATPase subunit alpha-3 isoform 3

Status: VALIDATED

Source sequence(s)

AC125468
NM_001420793.1 → NP_001407722.1 sodium/potassium-transporting ATPase subunit alpha-3 isoform 4

Status: VALIDATED

Source sequence(s)

AC125468

UniProtKB/TrEMBL

Q8VCE0

Related

ENSMUSP00000099922.4, ENSMUST00000102858.10
NM_001420794.1 → NP_001407723.1 sodium/potassium-transporting ATPase subunit alpha-3 isoform 5

Status: VALIDATED

Source sequence(s)

AC125468
NM_001420795.1 → NP_001407724.1 sodium/potassium-transporting ATPase subunit alpha-3 isoform 7

Status: VALIDATED

Source sequence(s)

AC125468

RNA

NR_185195.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC125468

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

24677592..24705338 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_144921.1: Suppressed sequence

Description

NM_144921.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.