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Aliases for ATP1A4 Gene

Aliases for ATP1A4 Gene

  • ATPase Na+/K+ Transporting Subunit Alpha 4 2 3 5
  • Sodium Pump Subunit Alpha-4 2 3 4
  • ATPase, Na+/K+ Transporting, Alpha Polypeptide-Like 2 2 3
  • Sodium/Potassium-Transporting ATPase Subunit Alpha-4 2 3
  • Sodium-Potassium ATPase Catalytic Subunit Alpha-4 2 3
  • ATPase, Na+/K+ Transporting, Alpha 4 Polypeptide 2 3
  • Na(+)/K(+) ATPase Alpha-4 Subunit 3 4
  • EC 3.6.3.9 4 58
  • ATP1AL2 3 4
  • Sodium/Potassium-Transporting ATPase Alpha-4 Chain 3
  • Na+/K+ ATPase, Alpha-D Polypeptide 3
  • Na,K-ATPase Subunit Alpha-C 3
  • Na+/K+ ATPase 4 3
  • Sodium Pump 4 3
  • EC 3.6.3 58
  • ATP1A1 3

External Ids for ATP1A4 Gene

Previous HGNC Symbols for ATP1A4 Gene

  • ATP1AL2

Previous GeneCards Identifiers for ATP1A4 Gene

  • GC01U990013
  • GC01P155853
  • GC01P156899
  • GC01P157338
  • GC01P156934
  • GC01P158387
  • GC01P160121
  • GC01P131478

Summaries for ATP1A4 Gene

Entrez Gene Summary for ATP1A4 Gene

  • The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATP1A4 Gene

ATP1A4 (ATPase Na+/K+ Transporting Subunit Alpha 4) is a Protein Coding gene. Among its related pathways are Hepatic ABC Transporters and Insulin secretion. GO annotations related to this gene include nucleotide binding and sodium:potassium-exchanging ATPase activity. An important paralog of this gene is ATP1A2.

UniProtKB/Swiss-Prot for ATP1A4 Gene

  • This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients. Plays a role in sperm motility.

Tocris Summary for ATP1A4 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.

Gene Wiki entry for ATP1A4 Gene

Additional gene information for ATP1A4 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP1A4 Gene

Genomics for ATP1A4 Gene

Regulatory Elements for ATP1A4 Gene

Enhancers for ATP1A4 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
GH01H159936 1.9 FANTOM5 Ensembl ENCODE dbSUPER 51.6 -210.1 -210105 10 PKNOX1 ATF1 SIN3A ZNF2 ZBTB7B YY1 ETS1 ZNF121 GLIS2 ZNF143 ATP1A4 KCNJ10 IGSF9 NHLH1 LINC01133 VSIG8 CFAP45 VANGL2 TAGLN2
GH01H160123 1.4 Ensembl ENCODE dbSUPER 61.6 -25.1 -25141 6 PKNOX1 FOXA2 FOS NFIL3 MAFF GLIS1 RCOR2 STAT3 KDM1A CTCF ATP1A4 IGSF8 PEA15 CASQ1 KCNJ9 PIGM ATP1A2 GC01M160128 GC01P160125 GC01P160126
GH01H160166 0.7 Ensembl dbSUPER 61.8 +14.8 14839 0 MCM3 RUNX3 ATP1A4 NCSTN DEDD LINC01133 ENSG00000256029 GC01P160171
GH01H160168 1.1 Ensembl ENCODE 38 +19.3 19283 4 PKNOX1 MAX EBF1 BATF ZIC2 RELA ETS1 POLR2A EED ETV6 ATP1A4 ATP1A2 GC01P160171
GH01H160095 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15.6 -52.0 -52015 8 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ATP1A4 IGSF8 CASQ1 KCNJ10 PEA15 DCAF8 PEX19 PIGM ENSG00000225279 ATP1A2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP1A4 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP1A4 Gene

Chromosome:
1
Start:
160,151,562 bp from pter
End:
160,186,977 bp from pter
Size:
35,416 bases
Orientation:
Plus strand

Genomic View for ATP1A4 Gene

Genes around ATP1A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP1A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP1A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP1A4 Gene

Proteins for ATP1A4 Gene

  • Protein details for ATP1A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13733-AT1A4_HUMAN
    Recommended name:
    Sodium/potassium-transporting ATPase subunit alpha-4
    Protein Accession:
    Q13733
    Secondary Accessions:
    • Q504T2
    • Q7Z4I9
    • Q8TBN8
    • Q8WXA7
    • Q8WXH7
    • Q8WY13

    Protein attributes for ATP1A4 Gene

    Size:
    1029 amino acids
    Molecular mass:
    114166 Da
    Quaternary structure:
    • Composed of three subunits: alpha (catalytic), beta and gamma.
    SequenceCaution:
    • Sequence=AAQ07964.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC05228.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ATP1A4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP1A4 Gene

Selected DME Specific Peptides for ATP1A4 Gene

Q13733:
  • AVETLGS
  • SSLTGES
  • FTHENPLET
  • NPLETRNI
  • TILCIDLGTD
  • YDEIRKL
  • LIFVYDE
  • MVTGDHPITAKAIAKGVGIIS
  • SIVTGVEEGRLIFDNLKK
  • GTARGIV
  • KNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWF
  • ESDIMKR
  • WTYEQRK
  • PRNPKTD
  • IVVVQWADL
  • GDRVPAD
  • PAISLAYE
  • DKTGTLT
  • SMIDPPRAAVPDAV
  • YTLTSNIPEI
  • TCQTAFF
  • VALRMYP
  • VFARTSPQQKL
  • QLFGGFS
  • DDNFASI
  • VGIISEG
  • EIEHFIH
  • PFNSTNK
  • NAYLELGG
  • KSSKIMESF
  • IIVANVPEGLLATVTV
  • ADIGIAMG
  • TVMGRIA
  • GSDVSKQAADMILLDDNFASIVTGVEEGR
  • AKSSKIM
  • LTAKRMA
  • SMIDPPR
  • TPEWVKFC
  • TGDHPITA
  • VPQQALV
  • AADMILLDDNF
  • IPLPLGT
  • FFSTNCV
  • VQWADLII
  • LGGLGERVLGFC
  • VAVTGDGVNDSPALKKADIG
  • EDSYGQQWT
  • KVAEIPFN
  • KNCLVKNLEAV
  • NDLEDSYGQ
  • LRMYPLK
  • EIPFNSTNKYQ
  • GFFTYFVILAENGF
  • KCRSAGIKV

Post-translational modifications for ATP1A4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP1A4 Gene

Domains & Families for ATP1A4 Gene

Gene Families for ATP1A4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for ATP1A4 Gene

Graphical View of Domain Structure for InterPro Entry

Q13733

UniProtKB/Swiss-Prot:

AT1A4_HUMAN :
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.
genes like me logo Genes that share domains with ATP1A4: view

Function for ATP1A4 Gene

Molecular function for ATP1A4 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + Na(+)(In) + K(+)(Out) = ADP + phosphate + Na(+)(Out) + K(+)(In).
UniProtKB/Swiss-Prot EnzymeRegulation:
Specifically inhibited by an endogenous cardiac glycoside, ouabain.
UniProtKB/Swiss-Prot Function:
This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium ions, providing the energy for active transport of various nutrients. Plays a role in sperm motility.

Enzyme Numbers (IUBMB) for ATP1A4 Gene

Phenotypes From GWAS Catalog for ATP1A4 Gene

Gene Ontology (GO) - Molecular Function for ATP1A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005391 sodium:potassium-exchanging ATPase activity TAS 7809153
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ATP1A4: view
genes like me logo Genes that share phenotypes with ATP1A4: view

Animal Models for ATP1A4 Gene

MGI Knock Outs for ATP1A4:

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP1A4

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ATP1A4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP1A4 Gene

Localization for ATP1A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP1A4 Gene

Cell membrane; Multi-pass membrane protein. Note=In mature sperm, located in the principle piece of the sperm flagellum.

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 ATP1A4 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for ATP1A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 7809153
GO:0005890 sodium:potassium-exchanging ATPase complex TAS 7809153
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ATP1A4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP1A4 Gene

Pathways & Interactions for ATP1A4 Gene

genes like me logo Genes that share pathways with ATP1A4: view

Gene Ontology (GO) - Biological Process for ATP1A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport TAS 7809153
GO:0006814 sodium ion transport TAS 7809153
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with ATP1A4: view

No data available for SIGNOR curated interactions for ATP1A4 Gene

Drugs & Compounds for ATP1A4 Gene

(8) Drugs for ATP1A4 Gene - From: DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rubidium chloride Rb-82 Approved Pharma Carrier, substrate 0
Potassium Approved Pharma 0
Water Approved Pharma 0
Lansoprazole Approved, Investigational Pharma H+,K+-ATPase inhibitor 221
Omeprazole Approved, Investigational, Vet_approved Pharma Activator H+,K+-ATPase inhibitor 355

(4) Additional Compounds for ATP1A4 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 ATP1A4 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 ATP1A4: view

Transcripts for ATP1A4 Gene

Unigene Clusters for ATP1A4 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ATP1A4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ATP1A4 Gene

No ASD Table

Relevant External Links for ATP1A4 Gene

GeneLoc Exon Structure for
ATP1A4
ECgene alternative splicing isoforms for
ATP1A4

Expression for ATP1A4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP1A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP1A4 Gene

This gene is overexpressed in Testis (x23.9) and Bladder (x5.4).

Protein differential expression in normal tissues from HIPED for ATP1A4 Gene

This gene is overexpressed in Brain (61.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATP1A4 Gene



Protein tissue co-expression partners for ATP1A4 Gene

NURSA nuclear receptor signaling pathways regulating expression of ATP1A4 Gene:

ATP1A4

SOURCE GeneReport for Unigene cluster for ATP1A4 Gene:

Hs.662219

mRNA Expression by UniProt/SwissProt for ATP1A4 Gene:

Q13733-AT1A4_HUMAN
Tissue specificity: Specifically expressed in testis. Found in very low levels in skeletal muscle. Expressed in mature sperm (at protein level).

Evidence on tissue expression from TISSUES for ATP1A4 Gene

  • Adrenal gland(2.4)
  • Kidney(2)
genes like me logo Genes that share expression patterns with ATP1A4: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP1A4 Gene

Orthologs for ATP1A4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP1A4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP1A4 33 34
  • 99.39 (n)
cow
(Bos Taurus)
Mammalia ATP1A4 33 34
  • 87.07 (n)
dog
(Canis familiaris)
Mammalia ATP1A4 33 34
  • 84.87 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 84 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Atp1a4 33
  • 82.94 (n)
mouse
(Mus musculus)
Mammalia Atp1a4 33 16 34
  • 82.31 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 79 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 79 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii atp1a2a 34
  • 77 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Atpalpha 34
  • 70 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea eat-6 34
  • 70 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENA1 34
  • 27 (a)
ManyToMany
ENA2 34
  • 27 (a)
ManyToMany
ENA5 34
  • 27 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 62 (a)
OneToMany
Species where no ortholog for ATP1A4 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ATP1A4 Gene

ENSEMBL:
Gene Tree for ATP1A4 (if available)
TreeFam:
Gene Tree for ATP1A4 (if available)

Paralogs for ATP1A4 Gene

Paralogs for ATP1A4 Gene

(7) SIMAP similar genes for ATP1A4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ATP1A4: view

Variants for ATP1A4 Gene

Sequence variations from dbSNP and Humsavar for ATP1A4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000031088 -- 160,163,853(+) CTGTG(A/G)CTATC intron-variant
rs1000066659 -- 160,172,297(+) GAGAT(A/G)GGCGG intron-variant
rs1000114606 -- 160,169,367(+) CTTCC(A/G)TGACC intron-variant
rs1000153213 -- 160,171,019(+) GCTTC(A/T)GGCTG intron-variant
rs1000174511 -- 160,160,827(+) AGAAA(G/T)AATCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP1A4 Gene

Variant ID Type Subtype PubMed ID
esv2761950 CNV gain 21179565
esv3578222 CNV loss 25503493
esv3578223 CNV loss 25503493
nsv520399 CNV loss 19592680
nsv522918 CNV loss 19592680
nsv819332 CNV loss 19587683

Variation tolerance for ATP1A4 Gene

Residual Variation Intolerance Score: 93.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.02; 68.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP1A4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP1A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP1A4 Gene

Disorders for ATP1A4 Gene

Relevant External Links for ATP1A4

Genetic Association Database (GAD)
ATP1A4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP1A4

No disorders were found for ATP1A4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP1A4 Gene

Publications for ATP1A4 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60
  2. The transcription factor CREMtau and cAMP regulate promoter activity of the Na,K-ATPase alpha4 isoform. (PMID: 16894555) Rodova M … Blanco G (Molecular reproduction and development 2006) 3 22 60
  3. The human Na,K-ATPase alpha 4 isoform is a ouabain-sensitive alpha isoform that is expressed in sperm. (PMID: 16175638) Hlivko JT … James PF (Molecular reproduction and development 2006) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60

Products for ATP1A4 Gene

Sources for ATP1A4 Gene

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