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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
    mouse all
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    Genomic context

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    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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    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_001256213.2 → 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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