U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 478, updated on 23-Nov-2023

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001256213.2NP_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:281024
      ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
    2. NM_001256214.2NP_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:301026
      ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
    3. NM_152296.5NP_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:171013
      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_047438862.1XP_047294818.1  sodium/potassium-transporting ATPase subunit alpha-3 isoform X1

      UniProtKB/TrEMBL
      B7Z3F8, 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_054321071.1XP_054177046.1  sodium/potassium-transporting ATPase subunit alpha-3 isoform X1

      UniProtKB/TrEMBL
      B7Z3F8, M0R116