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    ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 [ Homo sapiens (human) ]

    Gene ID: 476, updated on 4-Feb-2024

    Summary

    Official Symbol
    ATP1A1provided by HGNC
    Official Full Name
    ATPase Na+/K+ transporting subunit alpha 1provided by HGNC
    Primary source
    HGNC:HGNC:799
    See related
    Ensembl:ENSG00000163399 MIM:182310; AllianceGenome:HGNC:799
    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
    CMT2DD; HOMGSMR2
    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 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
    Expression
    Broad expression in kidney (RPKM 278.0), thyroid (RPKM 226.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ATP1A1 in Genome Data Viewer
    Location:
    1p13.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (116373244..116404774)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (116381314..116412844)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (116915866..116947396)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378919 Neighboring gene uncharacterized LOC105378920 Neighboring gene small nucleolar RNA U3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1229 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1561 Neighboring gene ATP1A1 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr1:116958386-116958887 Neighboring gene Sharpr-MPRA regulatory region 13778 Neighboring gene RNA, U6 small nuclear 817, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:116968695-116969196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:116969197-116969696 Neighboring gene long intergenic non-protein coding RNA 1762 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:116985590-116985791 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:117013937-117014172 Neighboring gene HNF1 motif-containing MPRA enhancer 99 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:117020893-117021452

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify sodium/potassium-transporting ATPase subunit alpha-1 (ATP1A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify sodium/potassium-transporting ATPase subunit alpha-1 (ATP1A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify sodium/potassium-transporting ATPase subunit alpha-1 (ATP1A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Cellular biotinylated ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1) protein is incorporated into HIV-1 Gag virus-like particles PubMed
    gag HIV-1 Gag fractionates with the cellular cytosol markers LC3A/B and the plasma membrane marker Na-K ATPase in 293T cells PubMed
    gag Tandem affinity purification and mass spectrometry analysis identify sodium/potassium-transporting ATPase subunit alpha-1 (ATP1A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC3285, MGC51750

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables P-type sodium:potassium-exchanging transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables potassium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein-folding chaperone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sodium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables steroid hormone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cardiac muscle cell action potential involved in contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell communication by electrical coupling involved in cardiac conduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to steroid hormone stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in establishment or maintenance of transmembrane electrochemical gradient NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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 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
     
    involved_in membrane repolarization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in membrane repolarization during cardiac muscle cell action potential IC
    Inferred by Curator
    more info
    PubMed 
    involved_in negative regulation of glucocorticoid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of heart contraction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of heart contraction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of striated muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    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 potassium ion import across plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in potassium ion import across plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in proton transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proton transmembrane transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of blood pressure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of sodium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of the force of heart contraction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in relaxation of cardiac muscle TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to glycoside IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    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 export across plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in T-tubule IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in basolateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular vesicle HDA PubMed 
    located_in lateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane raft ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in organelle membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    located_in photoreceptor inner segment membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in plasma membrane HDA PubMed 
    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
     
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in sarcolemma IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in sarcolemma ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of sodium:potassium-exchanging ATPase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of sodium:potassium-exchanging ATPase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of sodium:potassium-exchanging ATPase complex IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    part_of sodium:potassium-exchanging ATPase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of sodium:potassium-exchanging ATPase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    sodium/potassium-transporting ATPase subunit alpha-1
    Names
    ATPase, Na+/K+ transporting, alpha 1 polypeptide
    Na(+)/K(+) ATPase alpha-1 subunit
    Na+/K+ ATPase 1
    Na, K-ATPase, alpha-A catalytic polypeptide
    Na,K-ATPase alpha-1 subunit
    Na,K-ATPase catalytic subunit alpha-A protein
    sodium pump subunit alpha-1
    sodium-potassium ATPase catalytic subunit alpha-1
    sodium-potassium-ATPase, alpha 1 polypeptide
    NP_000692.2
    NP_001153705.1
    NP_001153706.1

    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_047036.1 RefSeqGene

      Range
      6060..37590
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000701.8NP_000692.2  sodium/potassium-transporting ATPase subunit alpha-1 isoform a

      See identical proteins and their annotated locations for NP_000692.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents use of an alternate promoter and 5' exon, compared to variant 3. The resulting isoform (a) is the same length but has a distinct N-terminus, compared to isoform c.
      Source sequence(s)
      BC050359, DC335233
      Consensus CDS
      CCDS887.1
      UniProtKB/Swiss-Prot
      B2RBR6, B7Z2T5, B7Z3U6, F5H3A1, P05023, Q16689, Q6LDM4, Q9UCN1, Q9UJ20, Q9UJ21
      UniProtKB/TrEMBL
      B7Z3V1
      Related
      ENSP00000295598.5, ENST00000295598.10
      Conserved Domains (1) summary
      TIGR01106
      Location:301023
      ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
    2. NM_001160233.2NP_001153705.1  sodium/potassium-transporting ATPase subunit alpha-1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).
      Source sequence(s)
      AK295095, AL136376, BC050359
      Consensus CDS
      CCDS53351.1
      UniProtKB/TrEMBL
      B7Z3V1
      Related
      ENSP00000445306.1, ENST00000537345.5
      Conserved Domains (6) summary
      smart00831
      Location:40114
      Cation_ATPase_N; Cation transporter/ATPase, N-terminus
      COG4087
      Location:606752
      COG4087; Soluble P-type ATPase [General function prediction only]
      TIGR01106
      Location:301023
      ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
      pfam00122
      Location:134365
      E1-E2_ATPase; E1-E2 ATPase
      pfam00689
      Location:7991008
      Cation_ATPase_C; Cation transporting ATPase, C-terminus
      pfam13246
      Location:427521
      Cation_ATPase; Cation transport ATPase (P-type)
    3. NM_001160234.2NP_001153706.1  sodium/potassium-transporting ATPase subunit alpha-1 isoform d

      See identical proteins and their annotated locations for NP_001153706.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents use of an alternate promoter and uses a downstream start codon compared to variant 3. The resulting isoform (d) has a shorter N-terminus compared to isoform c.
      Source sequence(s)
      AK296362, BC050359
      Consensus CDS
      CCDS53352.1
      UniProtKB/TrEMBL
      B7Z3V1
      Related
      ENSP00000358508.4, ENST00000369496.8
      Conserved Domains (6) summary
      smart00831
      Location:983
      Cation_ATPase_N; Cation transporter/ATPase, N-terminus
      COG4087
      Location:575721
      COG4087; Soluble P-type ATPase [General function prediction only]
      TIGR01106
      Location:1992
      ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
      pfam00122
      Location:103334
      E1-E2_ATPase; E1-E2 ATPase
      pfam00689
      Location:768977
      Cation_ATPase_C; Cation transporting ATPase, C-terminus
      pfam13246
      Location:396490
      Cation_ATPase; Cation transport ATPase (P-type)

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      116373244..116404774
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      116381314..116412844
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001001586.1: Suppressed sequence

      Description
      NM_001001586.1: This RefSeq was permanently suppressed because it is predicted to be subject to nonsense-mediated decay and reflects non-consensus splice sites when aligned to the genome.