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    ATP1B4 ATPase Na+/K+ transporting family member beta 4 [ Homo sapiens (human) ]

    Gene ID: 23439, updated on 2-Nov-2024

    Summary

    Official Symbol
    ATP1B4provided by HGNC
    Official Full Name
    ATPase Na+/K+ transporting family member beta 4provided by HGNC
    Primary source
    HGNC:HGNC:808
    See related
    Ensembl:ENSG00000101892 MIM:301073; AllianceGenome:HGNC:808
    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
    Summary
    This gene has been found in all vertebrate genomes sequenced to date. However, this gene has undergone a change in function in placental mammals compared to other species. Specifically, in fish, avian, and amphibian species, this gene encodes plasma membrane-bound beta-subunits of Na,K-ATPase. In placental mammals, the encoded protein interacts with the nuclear transcriptional coregulator SKIP and may be involved in the regulation of TGF-beta signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
    Expression
    Biased expression in prostate (RPKM 1.2), esophagus (RPKM 0.3) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See ATP1B4 in Genome Data Viewer
    Location:
    Xq24
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (120362089..120383237)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (118737159..118758401)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (119495944..119517092)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:119384374-119385212 Neighboring gene transmembrane protein 255A Neighboring gene prefoldin subunit 4-like Neighboring gene zinc finger and BTB domain containing 33 Neighboring gene NANOG hESC enhancer GRCh37_chrX:119408635-119409312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29903 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:119466056-119466798 Neighboring gene NANOG hESC enhancer GRCh37_chrX:119474477-119474999 Neighboring gene lysosomal associated membrane protein 2 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:119603089-119603353 Neighboring gene RNA, U7 small nuclear 68 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif upregulates the expression of ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4) in Vif-expression T 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables inorganic cation transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    NOT involved_in inorganic cation transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in potassium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in nuclear envelope TAS
    Traceable Author Statement
    more info
     
    is_active_in nuclear inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nuclear inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of sodium:potassium-exchanging ATPase complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein ATP1B4
    Names
    ATPase, Na+/K+ transporting, beta 4 polypeptide
    BetaM
    Na,K-ATPase beta m-subunit
    X,K-ATPase beta-m subunit
    x/potassium-transporting ATPase subunit beta-m

    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_016773.1 RefSeqGene

      Range
      5005..26153
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142447.3NP_001135919.1  protein ATP1B4 isoform A

      See identical proteins and their annotated locations for NP_001135919.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (A).
      Source sequence(s)
      AC006962, AF158383, AK309999
      Consensus CDS
      CCDS48158.1
      UniProtKB/Swiss-Prot
      Q17RR0, Q9UN41, Q9UN42
      UniProtKB/TrEMBL
      B7ZKV8
      Related
      ENSP00000218008.3, ENST00000218008.8
      Conserved Domains (1) summary
      pfam00287
      Location:82351
      Na_K-ATPase; Sodium / potassium ATPase beta chain
    2. NM_012069.5NP_036201.1  protein ATP1B4 isoform B

      See identical proteins and their annotated locations for NP_036201.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site that deletes 12 nts in the 5' coding region, compared to variant 1. This variant encodes isoform B which is 4 aa shorter than isoform A.
      Source sequence(s)
      AC006962, AF158384, AK309999
      Consensus CDS
      CCDS14598.1
      UniProtKB/TrEMBL
      B7ZKV8
      Related
      ENSP00000355346.3, ENST00000361319.3
      Conserved Domains (1) summary
      pfam00287
      Location:84346
      Na_K-ATPase; Sodium / potassium ATPase beta chain

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      120362089..120383237
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029381.2XP_016884870.1  protein ATP1B4 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      118737159..118758401
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326732.1XP_054182707.1  protein ATP1B4 isoform X1