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

    Gene ID: 23439, updated on 10-Dec-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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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. Genetic analysis of the ATP1B4 gene in Chinese Han patients with Parkinson's disease. Gao K, et al. Mol Biol Rep, 2014. PMID 24420862
    2. Identification of a novel gene of the X,K-ATPase beta-subunit family that is predominantly expressed in skeletal and heart muscles. Pestov NB, et al. FEBS Lett, 1999 Aug 6. PMID 10456317
    3. Isolation and characterization of BetaM protein encoded by ATP1B4--a unique member of the Na,K-ATPase β-subunit gene family. Pestov NB, et al. Biochem Biophys Res Commun, 2011 Sep 9. PMID 21855530
    4. Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes. Kung AW, et al. Clin Endocrinol (Oxf), 2006 Feb. PMID 16430714
    5. Evolution of Na,K-ATPase beta m-subunit into a coregulator of transcription in placental mammals. Pestov NB, et al. Proc Natl Acad Sci U S A, 2007 Jul 3. PMID 17592128, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. variant in the coding region of the ATP1B4 gene may play little or no role in the development of PD in Chinese Han population.
      Title: Genetic analysis of the ATP1B4 gene in Chinese Han patients with Parkinson's disease.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes.
    Submit: New GeneRIF Correction

    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)

    HIV-1 interactions

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    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

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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

    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

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    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)

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    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_001142447.3 → NP_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:82 → 351
      Na_K-ATPase; Sodium / potassium ATPase beta chain

    2. NM_012069.5 → NP_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:84 → 346
      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_017029381.2 → XP_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_054326732.1 → XP_054182707.1  protein ATP1B4 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UN42.1 GenPept UniProtKB/Swiss-Prot:Q9UN42

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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