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 ... See more...

Aliases for ATP1B4 Gene

Aliases for ATP1B4 Gene

  • ATPase Na+/K+ Transporting Family Member Beta 4 2 3 5
  • ATPase, Na+/K+ Transporting, Beta 4 Polypeptide 2 3
  • X/Potassium-Transporting ATPase Subunit Beta-M 3 4
  • Na,K-ATPase Beta M-Subunit 2 3
  • Protein ATP1B4 3 4
  • BetaM 2 3
  • ATPase, (Na+)/K+ Transporting, Beta 4 Polypeptide 2
  • X,K-ATPase Beta-M Subunit 3
  • X,K-ATPase Subunit Beta-M 4
  • ATP1B4 5

External Ids for ATP1B4 Gene

Previous GeneCards Identifiers for ATP1B4 Gene

  • GC0XP114313
  • GC0XP116481
  • GC0XP117471
  • GC0XP118250
  • GC0XP119277
  • GC0XP119379
  • GC0XP119495
  • GC0XP108947

Summaries for ATP1B4 Gene

Entrez Gene Summary for ATP1B4 Gene

  • 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]

GeneCards Summary for ATP1B4 Gene

ATP1B4 (ATPase Na+/K+ Transporting Family Member Beta 4) is a Protein Coding gene. Diseases associated with ATP1B4 include Acantholytic Acanthoma and Thyrotoxic Periodic Paralysis. Among its related pathways are Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include monovalent inorganic cation transmembrane transporter activity. An important paralog of this gene is ATP1B2.

UniProtKB/Swiss-Prot Summary for ATP1B4 Gene

  • May act as a transcriptional coregulator during muscle development through its interaction with SNW1. Has lost its ancestral function as a Na,K-ATPase beta-subunit.

Tocris Summary for ATP1B4 Gene

  • The Na+/K+ ATPase is a membrane protein that is composed of two subunits - alpha and beta. The pump maintains an essential electrochemical gradient within cells through the active transport of sodium (Na+) and potassium (K+) ions.

Additional gene information for ATP1B4 Gene

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP1B4 Gene

Genomics for ATP1B4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP1B4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ120359 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 600.7 +1.3 1323 10 CTCF PRDM10 ZNF143 SCRT2 RFX1 NFE2 SMC3 SCRT1 MAFG ZFHX2 ATP1B4 TMEM255A piR-58852-046 LAMP2
GH0XJ120428 Enhancer 0.7 Ensembl 13.4 +66.4 66416 1 ZNF629 PRDM1 ZNF600 KLF9 ZNF639 CEBPB ZNF316 OSR2 ZBTB17 NFIC ATP1B4 HSALNG0139846 HSALNG0139847 LAMP2
GH0XJ120316 Enhancer 0.6 Ensembl 11.8 -45.6 -45565 1.8 CREB1 ZNF629 FOXA1 ZNF217 FOSL1 DPF2 JUND PAX8 ATF3 FOS LAMP2 ATP1B4 TMEM255A lnc-TMEM255A-2
GH0XJ120275 Enhancer 0.5 Ensembl ENCODE 11.9 -86.7 -86684 1.6 TEAD4 PRDM1 ZBTB33 NKAPP1 ATP1B4 LAMP2 TMEM255A ENSG00000232042 lnc-ZBTB33-1 L13713-245
GH0XJ120427 Enhancer 0.4 Ensembl 13.4 +64.9 64916 1.2 ATF7 FOXA2 ATF2 JUND HSALNG0139846 TMEM255A ATP1B4 HSALNG0139847 LAMP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP1B4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP1B4

Top Transcription factor binding sites by QIAGEN in the ATP1B4 gene promoter:
  • ARP-1
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C

Genomic Locations for ATP1B4 Gene

Genomic Locations for ATP1B4 Gene
chrX:120,362,085-120,383,249
(GRCh38/hg38)
Size:
21,165 bases
Orientation:
Plus strand
chrX:119,495,940-119,517,104
(GRCh37/hg19)
Size:
21,165 bases
Orientation:
Plus strand

Genomic View for ATP1B4 Gene

Genes around ATP1B4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP1B4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP1B4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP1B4 Gene

Proteins for ATP1B4 Gene

  • Protein details for ATP1B4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UN42-AT1B4_HUMAN
    Recommended name:
    Protein ATP1B4
    Protein Accession:
    Q9UN42
    Secondary Accessions:
    • Q17RR0
    • Q9UN41

    Protein attributes for ATP1B4 Gene

    Size:
    357 amino acids
    Molecular mass:
    41598 Da
    Quaternary structure:
    • Associates with a SMAD7-transcriptional complex. Interacts with SNW1 and TOR1AIP1 (By similarity). According to PubMed:17592128, does not associate with known Na,K-ATPase alpha-subunits.

    Alternative splice isoforms for ATP1B4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP1B4 Gene

Post-translational modifications for ATP1B4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP1B4 Gene

No data available for DME Specific Peptides for ATP1B4 Gene

Domains & Families for ATP1B4 Gene

Gene Families for ATP1B4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ATP1B4 Gene

InterPro:
Blocks:
  • Na+/K+ ATPase, beta subunit
ProtoNet:

Suggested Antigen Peptide Sequences for ATP1B4 Gene

GenScript: Design optimal peptide antigens:
  • X/potassium-transporting ATPase subunit beta-m (AT1B4_HUMAN)
  • ATPase, (Na+)/K+ transporting, beta 4 polypeptide (B7ZKV8_HUMAN)
  • ATP1B4 protein (B7ZKV9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UN42

UniProtKB/Swiss-Prot:

AT1B4_HUMAN :
  • Belongs to the X(+)/potassium ATPases subunit beta family.
Family:
  • Belongs to the X(+)/potassium ATPases subunit beta family.
genes like me logo Genes that share domains with ATP1B4: view

Function for ATP1B4 Gene

Molecular function for ATP1B4 Gene

UniProtKB/Swiss-Prot Function:
May act as a transcriptional coregulator during muscle development through its interaction with SNW1. Has lost its ancestral function as a Na,K-ATPase beta-subunit.

Phenotypes From GWAS Catalog for ATP1B4 Gene

Gene Ontology (GO) - Molecular Function for ATP1B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17592128
GO:0015077 monovalent inorganic cation transmembrane transporter activity TAS 10456317
genes like me logo Genes that share ontologies with ATP1B4: view
genes like me logo Genes that share phenotypes with ATP1B4: view

Animal Model Products

CRISPR Products

miRNA for ATP1B4 Gene

miRTarBase miRNAs that target ATP1B4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP1B4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP1B4 Gene

Localization for ATP1B4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP1B4 Gene

Nucleus inner membrane. Single-pass type II membrane protein. Note=Detected in nuclear envelops. {ECO:0000269 PubMed:14656723, ECO:0000269 PubMed:17592128}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP1B4 gene
Compartment Confidence
plasma membrane 5
nucleus 5
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ATP1B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005635 nuclear envelope TAS --
GO:0005637 nuclear inner membrane IBA,IDA 17592128
GO:0005887 integral component of plasma membrane TAS 10456317
GO:0005890 sodium:potassium-exchanging ATPase complex IEA --
genes like me logo Genes that share ontologies with ATP1B4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP1B4 Gene

Pathways & Interactions for ATP1B4 Gene

genes like me logo Genes that share pathways with ATP1B4: view

Pathways by source for ATP1B4 Gene

Gene Ontology (GO) - Biological Process for ATP1B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IDA 17592128
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0015672 NOT monovalent inorganic cation transport IEA,IDA 17592128
genes like me logo Genes that share ontologies with ATP1B4: view

No data available for SIGNOR curated interactions for ATP1B4 Gene

Drugs & Compounds for ATP1B4 Gene

(9) Drugs for ATP1B4 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clotrimazole Approved, Vet_approved Pharma Pore Blocker, Inhibition, Agonist, Antagonist, Channel blocker, Gating inhibitor 3024
Magnesium Approved, Experimental, Investigational Pharma 0
Potassium Approved, Experimental Pharma 0
Water Approved Pharma 0
Digoxin Approved Pharma Na+/K+ ATPase inhibitor 179

(3) Additional Compounds for ATP1B4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5

(4) Tocris Compounds for ATP1B4 Gene

Compound Action Cas Number
Digoxin Na+/K+ ATPase inhibitor 20830-75-5
Lithium carbonate Mood stabilizer; inhibits Na+/K+ ATPase pump activity 554-13-2
Ouabain Na+/K+ ATPase inhibitor 630-60-4
Rostafuroxin Na+/K+ ATPase modulator; antihypertensive agent 156722-18-8
genes like me logo Genes that share compounds with ATP1B4: view

Transcripts for ATP1B4 Gene

mRNA/cDNA for ATP1B4 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP1B4

Alternative Splicing Database (ASD) splice patterns (SP) for ATP1B4 Gene

No ASD Table

Relevant External Links for ATP1B4 Gene

GeneLoc Exon Structure for
ATP1B4

Expression for ATP1B4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP1B4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP1B4 Gene

This gene is overexpressed in Muscle - Skeletal (x49.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP1B4

SOURCE GeneReport for Unigene cluster for ATP1B4 Gene:

Hs.292599

mRNA Expression by UniProt/SwissProt for ATP1B4 Gene:

Q9UN42-AT1B4_HUMAN
Tissue specificity: Highly expressed in skeletal muscle and at a lower level in heart.

Evidence on tissue expression from TISSUES for ATP1B4 Gene

  • Muscle(4.6)
  • Skin(2.6)
  • Nervous system(2.3)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with ATP1B4: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP1B4 Gene

Orthologs for ATP1B4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATP1B4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATP1B4 30 31
  • 97.95 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATP1B4 30 31
  • 92.53 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP1B4 30 31
  • 91.46 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atp1b4 30 17 31
  • 89.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp1b4 30
  • 89.14 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ATP1B4 31
  • 62 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ATP1B4 31
  • 49 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ATP1B4 30 31
  • 67.63 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATP1B4 31
  • 50 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp1b4 30
  • 59.49 (n)
Zebrafish
(Danio rerio)
Actinopterygii atp1b4 30 31
  • 56.7 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3564 30
Fruit Fly
(Drosophila melanogaster)
Insecta nrv1 31
  • 29 (a)
ManyToMany
nrv3 31
  • 24 (a)
ManyToMany
nrv2 31
  • 22 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea nkb-1 31
  • 24 (a)
ManyToMany
nkb-3 31
  • 23 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10387 31
  • 24 (a)
OneToMany
Species where no ortholog for ATP1B4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ATP1B4 Gene

ENSEMBL:
Gene Tree for ATP1B4 (if available)
TreeFam:
Gene Tree for ATP1B4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP1B4: view image

Paralogs for ATP1B4 Gene

Paralogs for ATP1B4 Gene

(4) SIMAP similar genes for ATP1B4 Gene using alignment to 4 proteins:

  • AT1B4_HUMAN
  • B7ZKV8_HUMAN
  • B7ZKV9_HUMAN
  • B7ZKW0_HUMAN
genes like me logo Genes that share paralogs with ATP1B4: view

Variants for ATP1B4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP1B4 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs2072452 - p.Val48Ala

Additional dbSNP identifiers (rs#s) for ATP1B4 Gene

Structural Variations from Database of Genomic Variants (DGV) for ATP1B4 Gene

Variant ID Type Subtype PubMed ID
esv2758889 CNV loss 17122850
nsv1111389 CNV tandem duplication 24896259
nsv1115287 CNV deletion 24896259
nsv528786 CNV gain 19592680

Variation tolerance for ATP1B4 Gene

Residual Variation Intolerance Score: 78.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.51; 29.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP1B4 Gene

Human Gene Mutation Database (HGMD)
ATP1B4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP1B4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP1B4 Gene

Disorders for ATP1B4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ATP1B4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
acantholytic acanthoma
thyrotoxic periodic paralysis
  • thyrotoxic hypokalemic periodic paralysis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP1B4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ATP1B4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP1B4 Gene

Publications for ATP1B4 Gene

  1. Evolution of Na,K-ATPase beta m-subunit into a coregulator of transcription in placental mammals. (PMID: 17592128) Pestov NB … Modyanov NN (Proceedings of the National Academy of Sciences of the United States of America 2007) 2 3 4
  2. Identification of a novel gene of the X,K-ATPase beta-subunit family that is predominantly expressed in skeletal and heart muscles. (PMID: 10456317) Pestov NB … Modyanov NN (FEBS letters 1999) 2 3 4
  3. Isolation and characterization of BetaM protein encoded by ATP1B4--a unique member of the Na,K-ATPase β-subunit gene family. (PMID: 21855530) Pestov NB … Modyanov NN (Biochemical and biophysical research communications 2011) 2 3
  4. Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes. (PMID: 16430714) Kung AW … Chan V (Clinical endocrinology 2006) 3 41
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for ATP1B4 Gene

Sources for ATP1B4 Gene