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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
  • 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
  • Protein ATP1B4 3

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 Thyrotoxic Periodic Paralysis and Kufor-Rakeb Syndrome. Among its related pathways are Cardiac muscle contraction and Salivary secretion. GO annotations related to this gene include monovalent inorganic cation transmembrane transporter activity. An important paralog of this gene is ATP1B2.

UniProtKB/Swiss-Prot 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.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP1B4 Gene

Genomics for ATP1B4 Gene

Regulatory Elements for ATP1B4 Gene

Enhancers for ATP1B4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF120428 0.5 Ensembl 13.4 +66.6 66616 0.2 ZNF639 FEZF1 ZNF843 RFX5 GATA3 CTBP1 ZNF366 KLF9 ZNF600 KLF8 ATP1B4 LOC105373326
GH0XF120294 0.2 Ensembl 13 -67.4 -67385 0.2 ATP1B4 NKAPP1 LAMP2 TMEM255A ENSG00000232042
GH0XF120295 0.5 Ensembl 13 -67.0 -66985 0.2 ATP1B4 NKAPP1 LAMP2 TMEM255A ENSG00000232042
GH0XF120275 0.2 ENCODE 11.9 -86.9 -86885 0.2 ZFP64 TEAD4 ZNF140 ZNF266 ZNF101 ZNF664 ZNF354C KLF7 ZNF433 ZNF202 NKAPP1 EEF1A1P30 ZBTB33 ATP1B4 NKAP LAMP2 ENSG00000232042 TMEM255A
GH0XF120359 0.2 ENCODE 0.8 +1.9 1850 9.0 PKNOX1 MLX ARID4B DMAP1 RAD21 ZNF48 RARA ZNF121 SCRT2 ZNF143 TMEM255A ATP1B4 LOC105373326
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ATP1B4 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP1B4 Gene

Chromosome:
X
Start:
120,362,085 bp from pter
End:
120,383,249 bp from pter
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

Protein Domains for ATP1B4 Gene

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

No data available for Gene Families for ATP1B4 Gene

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.

Gene Ontology (GO) - Molecular Function for ATP1B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

miRNA for ATP1B4 Gene

miRTarBase miRNAs that target ATP1B4

Inhibitory RNA Products

Flow Cytometry Products

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
Jensen Localization Image for ATP1B4 Gene COMPARTMENTS Subcellular localization image for ATP1B4 gene
Compartment Confidence
nucleus 5
plasma membrane 5
mitochondrion 2
cytosol 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ATP1B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope TAS --
GO:0005637 nuclear inner membrane IEA,IDA 17592128
GO:0005887 integral component of plasma membrane TAS 10456317
GO:0005890 sodium:potassium-exchanging ATPase complex IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ATP1B4: view

Pathways & Interactions for ATP1B4 Gene

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

Gene Ontology (GO) - Biological Process for ATP1B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA,IDA 17592128
GO:0006810 transport IEA,TAS 10456317
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clotrimazole Approved, Vet_approved Pharma Inhibition, Pore Blocker Cytochrome P450 inhibitor; antifungal 35
Potassium Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Lansoprazole Approved, Investigational Pharma H+,K+-ATPase inhibitor 207

(4) Additional Compounds for ATP1B4 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
sodium
  • Sodium
  • Sodium ion
7440-23-5
PF 3716556
928774-43-0

(4) Tocris Compounds for ATP1B4 Gene

Compound Action Cas Number
Lansoprazole H+,K+-ATPase inhibitor 103577-45-3
Omeprazole H+,K+-ATPase inhibitor 73590-58-6
PF 3716556 Selective H+,K+-ATPase inhibitor 928774-43-0
SCH 28080 H+,K+-ATPase inhibitor 76081-98-6
genes like me logo Genes that share compounds with ATP1B4: view

Transcripts for ATP1B4 Gene

mRNA/cDNA for ATP1B4 Gene

Unigene Clusters for ATP1B4 Gene

ATPase, Na+/K+ transporting, beta 4 polypeptide:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for ATP1B4 Gene

GeneLoc Exon Structure for
ATP1B4
ECgene alternative splicing isoforms 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).

NURSA nuclear receptor signaling pathways regulating expression of ATP1B4 Gene:

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.
genes like me logo Genes that share expression patterns with ATP1B4: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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 34 35
  • 97.95 (n)
dog
(Canis familiaris)
Mammalia ATP1B4 34 35
  • 92.53 (n)
cow
(Bos Taurus)
Mammalia ATP1B4 34 35
  • 91.46 (n)
mouse
(Mus musculus)
Mammalia Atp1b4 34 16 35
  • 89.51 (n)
rat
(Rattus norvegicus)
Mammalia Atp1b4 34
  • 89.14 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ATP1B4 35
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP1B4 35
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP1B4 34 35
  • 67.63 (n)
lizard
(Anolis carolinensis)
Reptilia ATP1B4 35
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp1b4 34
  • 59.49 (n)
zebrafish
(Danio rerio)
Actinopterygii atp1b4 34 35
  • 56.7 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3564 34
fruit fly
(Drosophila melanogaster)
Insecta nrv1 35
  • 29 (a)
ManyToMany
nrv3 35
  • 24 (a)
ManyToMany
nrv2 35
  • 22 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea nkb-1 35
  • 24 (a)
ManyToMany
nkb-3 35
  • 23 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10387 35
  • 24 (a)
OneToMany
Species where no ortholog for ATP1B4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for ATP1B4 Gene

Paralogs for ATP1B4 Gene

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

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

Variants for ATP1B4 Gene

Sequence variations from dbSNP and Humsavar for ATP1B4 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs10429735 -- 120,379,000(+) atggg(A/C)aaatt intron-variant
rs10429787 -- 120,379,168(+) GGACT(C/T)GATAG intron-variant
rs111367955 -- 120,376,337(+) AAATA(C/T)GTTTT intron-variant
rs111403625 -- 120,382,423(+) TTAAA(A/C)CACTT utr-variant-3-prime
rs111466633 -- 120,372,518(+) CAGAA(C/T)CAGTG intron-variant

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)

Relevant External Links 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
thyrotoxic periodic paralysis
  • thyrotoxic hypokalemic periodic paralysis
kufor-rakeb syndrome
  • ceroid lipofuscinosis, neuronal, 12
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ATP1B4

Genetic Association Database (GAD)
ATP1B4
Human Genome Epidemiology (HuGE) Navigator
ATP1B4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP1B4
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 betam-subunit into a coregulator of transcription in placental mammals. (PMID: 17592128) Pestov N.B. … Modyanov N.N. (Proc. Natl. Acad. Sci. U.S.A. 2007) 2 3 4 64
  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 N.B. … Modyanov N.N. (FEBS Lett. 1999) 2 3 4 64
  3. Isolation and characterization of BetaM protein encoded by ATP1B4--a unique member of the Na,K-ATPase I^-subunit gene family. (PMID: 21855530) Pestov N.B. … Modyanov N.N. (Biochem. Biophys. Res. Commun. 2011) 2 3 64
  4. Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes. (PMID: 16430714) Kung A.W. … Chan V. (Clin. Endocrinol. (Oxf) 2006) 3 46 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for ATP1B4 Gene

Sources for ATP1B4 Gene

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