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

Gene ID: 23439, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (120362089..120383237)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (118737159..118758401)
105.20220307 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. 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
  3. 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
  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)

Genotypes

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_2023_10

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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