U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Nucleotide

    • Showing Current items.

    ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 [ Homo sapiens (human) ]

    Gene ID: 480, updated on 27-Nov-2024

    Summary

    Official Symbol
    ATP1A4provided by HGNC
    Official Full Name
    ATPase Na+/K+ transporting subunit alpha 4provided by HGNC
    Primary source
    HGNC:HGNC:14073
    See related
    Ensembl:ENSG00000132681 MIM:607321; AllianceGenome:HGNC:14073
    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
    ATP1A1; ATP1AL2
    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 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in testis (RPKM 7.3), brain (RPKM 2.1) and 4 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ATP1A4 in Genome Data Viewer
    Location:
    1q23.2
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (160151603..160186980)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (159288690..159324059)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160121393..160156770)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160066015-160066541 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160066542-160067070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160067071-160067597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160070686-160071186 Neighboring gene immunoglobulin superfamily member 8 Neighboring gene Sharpr-MPRA regulatory region 5459 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160079539-160080060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160081809-160082428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160082429-160083048 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160083669-160084287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160085040-160085823 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160093987-160095186 Neighboring gene ATPase Na+/K+ transporting subunit alpha 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160135860-160136392 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160138857-160139851 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160143677-160144876 Neighboring gene calsequestrin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1915 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1916 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1459 Neighboring gene uncharacterized LOC729867 Neighboring gene proliferation and apoptosis adaptor protein 15

    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

    Related articles in PubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC25056

    Gene Ontology Provided by GOA

    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 ATPase-coupled monoatomic cation transmembrane transporter activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    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 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 P-type sodium:potassium-exchanging transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables kinase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell surface receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment or maintenance of transmembrane electrochemical gradient IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fertilization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in flagellated sperm motility IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in flagellated sperm motility 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 sodium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in monoatomic ion transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in potassium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in potassium ion transmembrane transport IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in potassium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in potassium ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in proton transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proton transmembrane transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cellular pH IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of membrane potential 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 transmembrane transport IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in sodium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sodium ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cell projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane raft ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in photoreceptor cell cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in rod photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of sodium:potassium-exchanging ATPase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of sodium:potassium-exchanging ATPase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of sodium:potassium-exchanging ATPase complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in sperm midpiece IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    sodium/potassium-transporting ATPase subunit alpha-4
    Names
    ATPase, Na+/K+ transporting, alpha 4 polypeptide
    ATPase, Na+/K+ transporting, alpha polypeptide-like 2
    Na(+)/K(+) ATPase alpha-4 subunit
    Na+/K+ ATPase 4
    Na+/K+ ATPase, alpha-D polypeptide
    Na,K-ATPase subunit alpha-C
    sodium pump 4
    sodium pump subunit alpha-4
    sodium-potassium ATPase catalytic subunit alpha-4
    sodium/potassium-transporting ATPase alpha-4 chain
    NP_001001734.1
    NP_653300.2
    XP_011507884.1
    XP_054192735.1

    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.

    mRNA and Protein(s)

    1. NM_001001734.2NP_001001734.1  sodium/potassium-transporting ATPase subunit alpha-4 isoform 2

      See identical proteins and their annotated locations for NP_001001734.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2), which has not been experimentally confirmed, has a shorter N-terminus when compared to isoform 1.
      Source sequence(s)
      AL121987, BC028297
      Consensus CDS
      CCDS44255.1
      UniProtKB/Swiss-Prot
      Q13733
      Related
      ENSP00000433094.1, ENST00000470705.1
      Conserved Domains (1) summary
      cl21460
      Location:1162
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    2. NM_144699.4NP_653300.2  sodium/potassium-transporting ATPase subunit alpha-4 isoform 1

      See identical proteins and their annotated locations for NP_653300.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (1).
      Source sequence(s)
      AL121987, BC028297, BC036052, BC094801, BX647234, DB094047
      Consensus CDS
      CCDS1197.1
      UniProtKB/Swiss-Prot
      Q13733, Q504T2, Q7Z4I9, Q8TBN8, Q8WXA7, Q8WXH7, Q8WY13
      Related
      ENSP00000357060.4, ENST00000368081.9
      Conserved Domains (6) summary
      smart00831
      Location:49122
      Cation_ATPase_N; Cation transporter/ATPase, N-terminus
      COG4087
      Location:609758
      COG4087; Soluble P-type ATPase [General function prediction only]
      TIGR01106
      Location:351029
      ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
      pfam00122
      Location:154373
      E1-E2_ATPase; E1-E2 ATPase
      pfam00689
      Location:8051014
      Cation_ATPase_C; Cation transporting ATPase, C-terminus
      pfam13246
      Location:435527
      Cation_ATPase; Cation transport ATPase (P-type)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      160151603..160186980
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509582.2XP_011507884.1  sodium/potassium-transporting ATPase subunit alpha-4 isoform X1

      Conserved Domains (6) summary
      smart00831
      Location:763
      Cation_ATPase_N; Cation transporter/ATPase, N-terminus
      COG4087
      Location:550699
      COG4087; Soluble P-type ATPase [General function prediction only]
      TIGR01106
      Location:8970
      ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
      pfam00122
      Location:95314
      E1-E2_ATPase; E1-E2 ATPase
      pfam00689
      Location:746955
      Cation_ATPase_C; Cation transporting ATPase, C-terminus
      pfam13246
      Location:376468
      Cation_ATPase; Cation transport ATPase (P-type)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      159288690..159324059
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336760.1XP_054192735.1  sodium/potassium-transporting ATPase subunit alpha-4 isoform X1