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... See more...

Aliases for ATP1A4 Gene

Aliases for ATP1A4 Gene

  • ATPase Na+/K+ Transporting Subunit Alpha 4 2 3 5
  • Sodium/Potassium-Transporting ATPase Subunit Alpha-4 2 3 4
  • Sodium Pump Subunit Alpha-4 2 3 4
  • ATPase, Na+/K+ Transporting, Alpha Polypeptide-Like 2 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
  • 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 7.2.2.13 4
  • EC 3.6.3.9 51
  • EC 3.6.3 51
  • ATP1A1 3
  • ATP1A4 5

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. Diseases associated with ATP1A4 include Charcot-Marie-Tooth Disease, Axonal, Type 2Dd and Parastremmatic Dwarfism. Among its related pathways are Collagen chain trimerization and Cardiac muscle contraction. Gene Ontology (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 Summary 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

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP1A4 Gene

Genomics for ATP1A4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP1A4 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
GH01J160175 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 605.3 +25.6 25550 2.5 FOXA1 NR2C2 GATA3 TAF7 ZNF687 NR3C1 RAD51 ATP1A4 CASQ1 NONHSAG003206.2
GH01J160151 Promoter 0.4 EPDnew 600.7 +0.0 13 0.1 ZNF366 ATP1A4 lnc-ATP1A2-1 CASQ1
GH01J160152 Enhancer 0.3 Ensembl 600.7 +0.6 615 0.4 SPI1 ZNF366 ATP1A4 lnc-ATP1A2-1 CASQ1
GH01J159936 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 51.6 -210.0 -210012 10.5 CTCF PRDM10 ZNF629 RFX1 SIX5 ZNF692 TARDBP JUND FOXA1 ZNF143 IGSF9 lnc-SLAMF9-1 ATP1A4 KCNJ10 NHLH1 LINC01133 VSIG8 CFAP45 VANGL2 TAGLN2
GH01J160123 Enhancer 1.2 Ensembl ENCODE dbSUPER 61.6 -25.2 -25165 6.8 CEBPG CREB1 GATAD2A PRDM10 CTCF ZNF7 JUND ZIC2 PKNOX1 HDAC1 ATP1A4 IGSF8 PEA15 CASQ1 KCNJ9 PIGM ATP1A2 RF00017-368 NONHSAG003205.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP1A4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP1A4

Top Transcription factor binding sites by QIAGEN in the ATP1A4 gene promoter:
  • AhR
  • AREB6
  • Arnt
  • Evi-1
  • HNF-1
  • HTF
  • Nkx5-1
  • Pax-3
  • ZID

Genomic Locations for ATP1A4 Gene

Genomic Locations for ATP1A4 Gene
chr1:160,151,586-160,186,980
(GRCh38/hg38)
Size:
35,395 bases
Orientation:
Plus strand
chr1:160,121,352-160,156,767
(GRCh37/hg19)
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:
    • The sodium/potassium-transporting ATPase is composed of a catalytic alpha subunit, an auxiliary non-catalytic beta subunit and an additional regulatory subunit.
    SequenceCaution:
    • Sequence=AAQ07964.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC05228.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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

Protein Domains for ATP1A4 Gene

InterPro:
Blocks:
  • ATPase, E1-E2 type
  • Cation transporting ATPase, C-terminal
  • Sodium/potassium-transporting ATPase signature
  • E1-E2 ATPase-associated region
ProtoNet:

Suggested Antigen Peptide Sequences for ATP1A4 Gene

GenScript: Design optimal peptide antigens:
  • Sodium pump subunit alpha-4 (AT1A4_HUMAN)
  • ATPase, Na+/K+ transporting, alpha 4 polypeptide (B1AKZ1_HUMAN)

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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate; Xref=Rhea:RHEA:18353, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29101, ChEBI:CHEBI:29103, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=7.2.2.13;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Specifically inhibited by an endogenous cardiac glycoside, ouabain.

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:0000166 nucleotide binding IEA --
GO:0005391 sodium:potassium-exchanging ATPase activity IBA,TAS 7809153
GO:0005515 protein binding IPI 16861705
GO:0005524 ATP binding IEA --
GO:0008556 potassium-transporting ATPase activity 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP1A4

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
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ATP1A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 7809153
GO:0005890 sodium:potassium-exchanging ATPase complex IPI,TAS 7809153
GO:0016020 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

Pathways by source for ATP1A4 Gene

2 Qiagen pathways for ATP1A4 Gene
  • Aldosterone Signaling in Epithelial Cells
  • Hepatic ABC Transporters

Gene Ontology (GO) - Biological Process for ATP1A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport NAS 30280653
GO:0006813 potassium ion transport TAS 7809153
GO:0006814 sodium ion transport TAS 7809153
GO:0006883 cellular sodium ion homeostasis IBA 21873635
GO:0007166 cell surface receptor signaling pathway ISS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rubidium Rb-82 Approved, Investigational Pharma Carrier, substrate 0
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 ATP1A4 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 ATP1A4 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 ATP1A4: view

Transcripts for ATP1A4 Gene

mRNA/cDNA for ATP1A4 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 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 ATP1A4

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

No ASD Table

Relevant External Links for ATP1A4 Gene

GeneLoc Exon Structure for
ATP1A4

Expression for ATP1A4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for ATP1A4 Gene



Protein tissue co-expression partners for ATP1A4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(2.8)
  • Kidney(2.7)
  • Nervous system(2.6)
  • Heart(2.4)
  • Blood(2.3)
  • Intestine(2.3)
  • Eye(2.3)
  • Skin(2.2)
  • Liver(2.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with ATP1A4: view

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 30 31
  • 99.39 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP1A4 30 31
  • 87.07 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATP1A4 30 31
  • 84.87 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 84 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Atp1a4 30
  • 82.94 (n)
Mouse
(Mus musculus)
Mammalia Atp1a4 30 17 31
  • 82.31 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 79 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 79 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii atp1a2a 31
  • 77 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Atpalpha 31
  • 70 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea eat-6 31
  • 70 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENA2 31
  • 27 (a)
ManyToMany
ENA5 31
  • 27 (a)
ManyToMany
ENA1 31
  • 27 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 62 (a)
OneToMany
Species where no ortholog for ATP1A4 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)
  • 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 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ATP1A4: view image

Paralogs for ATP1A4 Gene

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

  • AT1A4_HUMAN
  • E9PRA5_HUMAN
genes like me logo Genes that share paralogs with ATP1A4: view

Variants for ATP1A4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP1A4 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
710877 Benign: not provided 160,152,095(+) C/A SYNONYMOUS_VARIANT
725558 Benign: not provided 160,158,998(+) A/C INTRON_VARIANT
725705 Benign: not provided 160,171,381(+) T/G MISSENSE_VARIANT
762511 Likely Benign: not provided 160,164,253(+) C/T SYNONYMOUS_VARIANT
782800 Benign: not provided 160,171,735(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ATP1A4 Gene

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)

Additional Variant Information for ATP1A4 Gene

Human Gene Mutation Database (HGMD)
ATP1A4
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

MalaCards: The human disease database

(7) MalaCards diseases for ATP1A4 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP1A4

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

No data available for 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
  2. 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
  3. 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 23
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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 ATP1A4 Gene

Sources for ATP1A4 Gene