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Aliases for ATP1B4 Gene

Aliases for ATP1B4 Gene

  • ATPase, Na+/K+ Transporting, Beta 4 Polypeptide 2 3
  • ATPase, (Na+)/K+ Transporting, Beta 4 Polypeptide 2
  • X/Potassium-Transporting ATPase Subunit Beta-M 4
  • Na,K-ATPase Beta M-Subunit 2
  • X,K-ATPase Subunit Beta-M 4

External Ids for ATP1B4 Gene

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, Beta 4 Polypeptide) is a Protein Coding gene. Diseases associated with ATP1B4 include thyrotoxic periodic paralysis. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Salivary secretion. GO annotations related to this gene include monovalent inorganic cation transmembrane transporter activity. An important paralog of this gene is ATP1B3.

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

  • Na+,K+-ATPase is an ion pump responsible for maintaining sodium and potassium electrochemical gradients across the plasma membrane.

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

Genomics for ATP1B4 Gene

Genomic Location for ATP1B4 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP1B4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP1B4 Gene

Regulatory Elements 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

Proteomics data for ATP1B4 Gene at MOPED

Post-translational modifications for ATP1B4 Gene

No Post-translational modifications

Other Protein References for ATP1B4 Gene

No data available for DME Specific Peptides for ATP1B4 Gene

Domains for ATP1B4 Gene

Gene Families for ATP1B4 Gene

HGNC:
  • PATP :ATPases / P-type

Protein Domains for ATP1B4 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UN42

UniProtKB/Swiss-Prot:

AT1B4_HUMAN
Family:
  • Belongs to the X(+)/potassium ATPases subunit beta family.:
    • Q9UN42
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.

Gene Ontology (GO) - Molecular Function for ATP1B4 Gene

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

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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 4
mitochondrion 2
cytosol 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ATP1B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005635 nuclear envelope TAS --
GO:0005637 nuclear inner membrane 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

Pathways for ATP1B4 Gene

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

Interacting Proteins for ATP1B4 Gene

Gene Ontology (GO) - Biological Process for ATP1B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated TAS --
GO:0006355 regulation of transcription, DNA-templated IDA 17592128
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0006810 transport TAS 10456317
GO:0006813 potassium ion transport --
genes like me logo Genes that share ontologies with ATP1B4: view

Compounds for ATP1B4 Gene

(2) 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]

(8) HMDB Compounds for ATP1B4 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Clotrimazole
  • (Chlorotrityl)imidazole
23593-75-1
Magnesium
  • Magnesium
7439-95-4
Phosphate
  • NFB Orthophosphate
14265-44-2
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:

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 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 (49.0).

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 expressions with ATP1B4: view

No data available for Protein expression 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 35
  • 97.95 (n)
  • 96.92 (a)
ATP1B4 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP1B4 35
  • 91.46 (n)
  • 91.83 (a)
ATP1B4 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP1B4 35
  • 92.53 (n)
  • 93.84 (a)
ATP1B4 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp1b4 35
  • 89.51 (n)
  • 89.04 (a)
Atp1b4 16
Atp1b4 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP1B4 36
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP1B4 36
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp1b4 35
  • 89.14 (n)
  • 89.04 (a)
chicken
(Gallus gallus)
Aves ATP1B4 35
  • 67.63 (n)
  • 62.82 (a)
ATP1B4 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP1B4 36
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp1b4 35
  • 59.49 (n)
  • 55.11 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3564 35
zebrafish
(Danio rerio)
Actinopterygii atp1b4 35
  • 56.7 (n)
  • 48.34 (a)
atp1b4 36
  • 41 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta nrv1 36
  • 29 (a)
ManyToMany
nrv2 36
  • 22 (a)
ManyToMany
nrv3 36
  • 24 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea nkb-1 36
  • 24 (a)
ManyToMany
nkb-3 36
  • 23 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10387 36
  • 24 (a)
OneToMany
Species with no ortholog for ATP1B4:
  • 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

Selected 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 MAF
rs1860995 -- 120,368,267(+) ATCCA(C/T)TGGGC intron-variant
rs2072452 - 120,366,604(+) GGTGG(C/T)GCCCA missense, reference
rs2075099 -- 120,370,584(+) AGCAA(A/G)GACAT intron-variant
rs2192257 -- 120,383,048(+) ATACT(A/G)CTTCC utr-variant-3-prime
rs2227305 -- 120,379,774(+) CTATG(A/C)CATGT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv2470e1 CNV Complex 17122850
nsv528786 CNV Gain 19592680

Relevant External Links for ATP1B4 Gene

HapMap Linkage Disequilibrium report
ATP1B4
Human Gene Mutation Database (HGMD)
ATP1B4
Locus Specific Mutation Databases (LSDB)
ATP1B4

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

Disorders for ATP1B4 Gene

Relevant External Links for ATP1B4

Genetic Association Database (GAD)
ATP1B4
Human Genome Epidemiology (HuGE) Navigator
ATP1B4
genes like me logo Genes that share disorders with ATP1B4: view

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

Publications for ATP1B4 Gene

  1. 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
  2. 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
  3. Accumulation of beta (m), a structural member of X,K-ATPase beta- subunit family, in nuclear envelopes of perinatal myocytes. (PMID: 14656723) Zhao H. … Modyanov N.N. (Am. J. Physiol. 2004) 4 23
  4. Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes. (PMID: 16430714) Kung A.W. … Chan V. (Clin. Endocrinol. (Oxf) 2006) 3 48
  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

Products for ATP1B4 Gene

Sources for ATP1B4 Gene

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