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ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 [ Homo sapiens (human) ]

Gene ID: 478, updated on 7-Apr-2024

Summary

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Official Symbol
ATP1A3provided by HGNC
Official Full Name
ATPase Na+/K+ transporting subunit alpha 3provided by HGNC
Primary source
HGNC:HGNC:801
See related
Ensembl:ENSG00000105409 MIM:182350; AllianceGenome:HGNC:801
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RDP; AHC2; CAPOS; DEE99; DYT12; ATP1A1
Summary
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]
Expression
Biased expression in brain (RPKM 145.6), heart (RPKM 51.8) and 2 other tissues See more
Orthologs
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Genomic context

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See ATP1A3 in Genome Data Viewer
Location:
19q13.2
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (41966582..41994230, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (44785945..44813592, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (42470734..42498382, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Rho guanine nucleotide exchange factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42424596-42425277 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42426221-42426848 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42432998-42433498 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:42435363-42435894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42439007-42439506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10678 Neighboring gene ETS repressor factor like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14693 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14695 Neighboring gene Rab acceptor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10682 Neighboring gene glutamate ionotropic receptor kainate type subunit 5 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:42536134-42536906 Neighboring gene Sharpr-MPRA regulatory regions 411/7488 and 4104 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:42539441-42539940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14697 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14698 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10683 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14699 Neighboring gene zinc finger protein 574 Neighboring gene POU class 2 homeobox 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14700 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10685 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14701 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10686 Neighboring gene microRNA 4323 Neighboring gene long non-coding regulator of POU2F2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA. Huang D, et al. Eur J Pediatr, 2023 Feb. PMID 36484864
  2. Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome. Arystarkhova E, et al. J Biol Chem, 2023 Jan. PMID 36462665, Free PMC Article
  3. The Phenotypic Continuum of ATP1A3-Related Disorders. Vezyroglou A, et al. Neurology, 2022 Oct 4. PMID 36192182, Free PMC Article
  4. Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family. Wei W, et al. Neurol Sci, 2022 Apr. PMID 34783933
  5. The diagnostic spectrum of ATP1A3-related disorders: 3 new patients. Lax DN, et al. J Neurol Sci, 2021 Nov 15. PMID 34655904

See all (140) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis.
    Title: Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis.
  2. Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features.
    Title: Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features.
  3. ATP1A3 as a target for isolating neuron-specific extracellular vesicles from human brain and biofluids.
    Title: ATP1A3 as a target for isolating neuron-specific extracellular vesicles from human brain and biofluids.
  4. Germline mosaicism for a disease-causing mutation in the ATP1A3 gene in a Chinese family.
    Title: Germline mosaicism for a disease-causing mutation in the ATP1A3 gene in a Chinese family.
  5. Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome.
    Title: Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome.
  6. ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.
    Title: ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.
  7. The Phenotypic Continuum of ATP1A3-Related Disorders.
    Title: The Phenotypic Continuum of ATP1A3-Related Disorders.
  8. Vanishing basal ganglia in ATP1A3-related polymicrogyria.
    Title: Vanishing basal ganglia in ATP1A3-related polymicrogyria.
  9. Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.
    Title: Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.
  10. Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.
    Title: Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.
Submit: New GeneRIF Correction See all GeneRIFs (87)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC13276

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables P-type sodium:potassium-exchanging transporter activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables amyloid-beta binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables amyloid-beta binding TAS
Traceable Author Statement
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-folding chaperone binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables steroid hormone binding NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell communication by electrical coupling involved in cardiac conduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in cellular response to amyloid-beta ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cellular response to steroid hormone stimulus NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in establishment or maintenance of transmembrane electrochemical gradient IEA
Inferred from Electronic Annotation
more info
  
involved_in intracellular potassium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intracellular potassium ion homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
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 neuron projection maintenance IGI
Inferred from Genetic Interaction
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 IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in proton transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of resting membrane potential TAS
Traceable Author Statement
more info
 PubMed 
involved_in response to glycoside NAS
Non-traceable Author Statement
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 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in axon IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular vesicle HDA PubMed 
located_in membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in neuron to neuron synapse ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in neuronal cell body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in neuronal cell body membrane IC
Inferred by Curator
more info
 PubMed 
located_in organelle membrane IGI
Inferred from Genetic Interaction
more info
 PubMed 
located_in photoreceptor inner segment ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in photoreceptor inner segment membrane ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IGI
Inferred from Genetic Interaction
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of sodium:potassium-exchanging ATPase complex IC
Inferred by Curator
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 NAS
Non-traceable Author Statement
more info
 PubMed 
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
ATPase, Na+/K+ transporting, alpha 3 polypeptide
Na(+)/K(+) ATPase alpha(III) subunit
Na(+)/K(+) ATPase alpha-3 subunit
Na+, K+ activated adenosine triphosphatase alpha subunit
Na+/K+ ATPase 3
sodium pump subunit alpha-3
sodium-potassium ATPase catalytic subunit alpha-3
sodium-potassium-ATPase, alpha 3 polypeptide
sodium/potassium-transporting ATPase alpha-3 chain
NP_001243142.1
NP_001243143.1
NP_689509.1
XP_047294818.1
XP_054177046.1

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.

Genomic

  1. NG_008015.1 RefSeqGene

    Range
    5001..32649
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1186

mRNA and Protein(s)

  1. NM_001256213.2 → NP_001243142.1  sodium/potassium-transporting ATPase subunit alpha-3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' exon, compared to variant 1. The resulting isoform (2) has a different and longer N-terminus, compared to isoform 1.
    Source sequence(s)
    AK223569, AK295078, AK296557, BC009282
    Consensus CDS
    CCDS58663.1
    UniProtKB/TrEMBL
    B7Z9V4
    Related
    ENSP00000437577.1, ENST00000543770.5
    Conserved Domains (1) summary
    TIGR01106
    Location:28 → 1024
    ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit

  2. NM_001256214.2 → NP_001243143.1  sodium/potassium-transporting ATPase subunit alpha-3 isoform 3

    See identical proteins and their annotated locations for NP_001243143.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an additional in-frame segment in the 5' coding region, compared to variant 1. The resulting isoform (3) is longer than isoform 1.
    Source sequence(s)
    AK223569, AK295078, BC009282
    Consensus CDS
    CCDS58664.1
    UniProtKB/TrEMBL
    B7Z9V4
    Related
    ENSP00000444688.1, ENST00000545399.6
    Conserved Domains (1) summary
    TIGR01106
    Location:30 → 1026
    ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit

  3. NM_152296.5 → NP_689509.1  sodium/potassium-transporting ATPase subunit alpha-3 isoform 1

    See identical proteins and their annotated locations for NP_689509.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the predominant transcript and encodes isoform (1).
    Source sequence(s)
    AK223569, AK295078, BC009282, DB482528
    Consensus CDS
    CCDS12594.1
    UniProtKB/Swiss-Prot
    B7Z2T0, B7Z401, F5H6J6, P13637, Q16732, Q16735, Q969K5
    UniProtKB/TrEMBL
    Q53ES0
    Related
    ENSP00000498113.1, ENST00000648268.1
    Conserved Domains (1) summary
    TIGR01106
    Location:17 → 1013
    ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    41966582..41994230 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047438862.1 → XP_047294818.1  sodium/potassium-transporting ATPase subunit alpha-3 isoform X1

    UniProtKB/TrEMBL
    M0R116
    Related
    ENSP00000471581.1, ENST00000602133.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    44785945..44813592 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054321071.1 → XP_054177046.1  sodium/potassium-transporting ATPase subunit alpha-3 isoform X1

    UniProtKB/TrEMBL
    M0R116
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P13637.3 GenPept UniProtKB/Swiss-Prot:P13637

Gene LinkOut

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