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Aliases for ATP1A1 Gene

Aliases for ATP1A1 Gene

  • ATPase, Na+/K+ Transporting, Alpha 1 Polypeptide 2 3
  • Sodium Pump Subunit Alpha-1 2 4
  • EC 3.6.3.9 4 63
  • Sodium/Potassium-Transporting ATPase Subunit Alpha-1 2
  • Sodium-Potassium ATPase Catalytic Subunit Alpha-1 2
  • Na(+)/K(+) ATPase Alpha-1 Subunit 4
  • EC 3.6.3 63

External Ids for ATP1A1 Gene

Previous GeneCards Identifiers for ATP1A1 Gene

  • GC01P117418
  • GC01P115798
  • GC01P116063
  • GC01P116262
  • GC01P116627
  • GC01P116717
  • GC01P116915
  • GC01P114773

Summaries for ATP1A1 Gene

Entrez Gene Summary for ATP1A1 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 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

GeneCards Summary for ATP1A1 Gene

ATP1A1 (ATPase, Na+/K+ Transporting, Alpha 1 Polypeptide) is a Protein Coding gene. Diseases associated with ATP1A1 include thyrotoxic periodic paralysis. Among its related pathways are Cytoskeletal Signaling and Diuretics Pathway, Pharmacodynamics. GO annotations related to this gene include protein kinase binding and chaperone binding. An important paralog of this gene is ATP4A.

UniProtKB/Swiss-Prot for ATP1A1 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

Tocris Summary for ATP1A1 Gene

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

Gene Wiki entry for ATP1A1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP1A1 Gene

Genomics for ATP1A1 Gene

Regulatory Elements for ATP1A1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ATP1A1 Gene

Start:
116,372,180 bp from pter
End:
116,410,261 bp from pter
Size:
38,082 bases
Orientation:
Plus strand

Genomic View for ATP1A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP1A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP1A1 Gene

Proteins for ATP1A1 Gene

  • Protein details for ATP1A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05023-AT1A1_HUMAN
    Recommended name:
    Sodium/potassium-transporting ATPase subunit alpha-1
    Protein Accession:
    P05023
    Secondary Accessions:
    • B2RBR6
    • B7Z2T5
    • B7Z3U6
    • F5H3A1
    • Q16689
    • Q6LDM4
    • Q9UCN1
    • Q9UJ20
    • Q9UJ21

    Protein attributes for ATP1A1 Gene

    Size:
    1023 amino acids
    Molecular mass:
    112896 Da
    Quaternary structure:
    • Interacts with SIK1 (By similarity). Composed of three subunits: alpha (catalytic), beta and gamma. Binds the HLA class II histocompatibility antigen, DR1. Interacts with SLC35G1 and STIM1.

    Alternative splice isoforms for ATP1A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP1A1 Gene

Proteomics data for ATP1A1 Gene at MOPED

Post-translational modifications for ATP1A1 Gene

  • Phosphorylation on Tyr-10 modulates pumping activity. Phosphorylation of Ser-943 by PKA modulates the response of ATP1A1 to PKC. Dephosphorylation by protein phosphatase 2A (PP2A) following increases in intracellular sodium, leading to increase catalytic activity (By similarity).
  • Ubiquitination at Lys45, Lys54, Lys162, Lys177, Lys212, Lys359, Lys377, Lys444, Lys468, Lys476, Lys487, Lys494, Lys508, Lys605, Lys612, Lys625, Lys629, Lys671, Lys683, Lys698, Lys843, and Lys1019
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP1A1 Gene

Domains for ATP1A1 Gene

Gene Families for ATP1A1 Gene

HGNC:
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

P05023

UniProtKB/Swiss-Prot:

AT1A1_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 ATP1A1: view

Function for ATP1A1 Gene

Molecular function for ATP1A1 Gene

GENATLAS Biochemistry:
ATPase,Na+K+,alpha 1 polypeptide
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + Na(+)(In) + K(+)(Out) = ADP + phosphate + Na(+)(Out) + K(+)(In)
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

Enzyme Numbers (IUBMB) for ATP1A1 Gene

Gene Ontology (GO) - Molecular Function for ATP1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0005391 sodium:potassium-exchanging ATPase activity ISS --
GO:0005515 protein binding IPI 11027149
GO:0005524 ATP binding ISS --
GO:0016791 phosphatase activity IEA --
genes like me logo Genes that share ontologies with ATP1A1: view
genes like me logo Genes that share phenotypes with ATP1A1: view

Animal Models for ATP1A1 Gene

MGI Knock Outs for ATP1A1:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP1A1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ATP1A1 Gene

Localization for ATP1A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP1A1 Gene

Cell membrane; Multi-pass membrane protein. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP1A1 Gene COMPARTMENTS Subcellular localization image for ATP1A1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 3
golgi apparatus 3
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ATP1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum ISS --
GO:0005794 Golgi apparatus ISS --
GO:0005886 plasma membrane TAS --
GO:0005890 sodium:potassium-exchanging ATPase complex IDA 10636900
genes like me logo Genes that share ontologies with ATP1A1: view

Pathways for ATP1A1 Gene

genes like me logo Genes that share pathways with ATP1A1: view

Pathways by source for ATP1A1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ATP1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002026 regulation of the force of heart contraction IEA --
GO:0002028 regulation of sodium ion transport ISS --
GO:0006754 ATP biosynthetic process --
GO:0006813 potassium ion transport --
GO:0006814 sodium ion transport --
genes like me logo Genes that share ontologies with ATP1A1: view

Drugs for ATP1A1 Gene

(16) Drugbank Compounds for ATP1A1 Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
Ciclopirox
  • 6-Cyclohexyl-1-hydroxy-4-methyl-2(1H)-pyridinone
29342-05-0 2749 Target binder approved, investigational
Bepridil
  • Bepadin
64706-54-3 2351 Target inhibitor approved, withdrawn
Acetyldigitoxin
  • Acetildigitoxina
25395-32-8 Target inhibitor approved
Almitrine
  • 2,4-Bis(allylamino)-6-(4-(bis(P-fluorophenyl)methyl)-1-piperazinyl)-S-triazine
27469-53-0 33887 Target binder approved
Aluminium
  • 13Al
7429-90-5 5359268 Target binder approved

(3) Tocris Compounds for ATP1A1 Gene

Compound Action Cas Number
Digoxin Na+/K+ ATPase inhibitor [20830-75-5]
Ouabain Na+/K+ ATPase inhibitor [630-60-4]
Rostafuroxin Antihypertensive agent; Na+/K+ ATPase modulator [156722-18-8]

(22) HMDB Compounds for ATP1A1 Gene

Compound Synonyms Cas Number PubMed IDs
Acetyldigitoxin
  • 3'''-O-Acetyldigitoxin
25395-32-8
Adenosine triphosphate
  • 5'-(Tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • Adenosindiphosphorsaeure
58-64-0
Almitrine
  • Almitrine bismesylate
27469-53-0
Aluminum
  • Al
7429-90-5

(2) Novoseek inferred chemical compound relationships for ATP1A1 Gene

Compound -log(P) Hits PubMed IDs
ouabain 54 2
calcium 0 2
genes like me logo Genes that share compounds with ATP1A1: view

Transcripts for ATP1A1 Gene

Unigene Clusters for ATP1A1 Gene

ATPase, Na+/K+ transporting, alpha 1 polypeptide:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP1A1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP1A1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ·
SP1: - -
SP2: - -
SP3: - -
SP4: - - -
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 16c ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24 ^ 25
SP1: - -
SP2: - - - - - - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for ATP1A1 Gene

GeneLoc Exon Structure for
ATP1A1
ECgene alternative splicing isoforms for
ATP1A1

Expression for ATP1A1 Gene

mRNA expression in normal human tissues for ATP1A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for ATP1A1 Gene

This gene is overexpressed in Frontal cortex (11.2), Nasal epithelium (7.9), and Brain (6.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP1A1 Gene

SOURCE GeneReport for Unigene cluster for ATP1A1 Gene Hs.371889

genes like me logo Genes that share expressions with ATP1A1: view

Expression partners for ATP1A1 Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ATP1A1 Gene

Orthologs for ATP1A1 Gene

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

Orthologs for ATP1A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATP1A1 35
  • 89.88 (n)
  • 97.65 (a)
ATP1A1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP1A1 35
  • 90.96 (n)
  • 97.65 (a)
ATP1A1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp1a1 35
  • 89.28 (n)
  • 96.87 (a)
Atp1a1 16
Atp1a1 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP1A1 35
  • 99.54 (n)
  • 99.61 (a)
ATP1A1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp1a1 35
  • 88.95 (n)
  • 96.77 (a)
oppossum
(Monodelphis domestica)
Mammalia mdo-mir-7282 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 93 (a)
OneToMany
-- 36
  • 55 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
chicken
(Gallus gallus)
Aves ATP1A1 35
  • 81.06 (n)
  • 92.56 (a)
ATP1A1 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP1A1 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp1a1 35
  • 79.24 (n)
  • 92.08 (a)
MGC76277 35
zebrafish
(Danio rerio)
Actinopterygii atp1a1a.1 35
  • 77.45 (n)
  • 88.95 (a)
atp1a1a.1 36
  • 89 (a)
OneToMany
atp1a1a.2 36
  • 79 (a)
OneToMany
atp1a1a.5 36
  • 79 (a)
OneToMany
atp1a1b 36
  • 88 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Atpalpha 37
  • 76 (a)
CG17923 37
  • 62 (a)
CG3701 37
  • 30 (a)
Atpalpha 36
  • 74 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C02E7.1 37
  • 35 (a)
eat-6 37
  • 73 (a)
Y105E8A.12 37
  • 31 (a)
eat-6 36
  • 74 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENA1 36
  • 27 (a)
ManyToMany
ENA2 36
  • 27 (a)
ManyToMany
ENA5 36
  • 27 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5338 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 67 (a)
OneToMany
Species with no ortholog for ATP1A1:
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for ATP1A1 Gene

ENSEMBL:
Gene Tree for ATP1A1 (if available)
TreeFam:
Gene Tree for ATP1A1 (if available)

Paralogs for ATP1A1 Gene

Paralogs for ATP1A1 Gene

(6) SIMAP similar genes for ATP1A1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with ATP1A1: view

Variants for ATP1A1 Gene

Sequence variations from dbSNP and Humsavar for ATP1A1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs757578 -- 116,375,763(+) GTGGG(C/T)GGAGA intron-variant
rs850599 -- 116,373,444(+) GGGAG(A/C)TGCTC utr-variant-5-prime, upstream-variant-2KB, intron-variant
rs850600 -- 116,373,485(+) GGACC(C/T)GGCGC utr-variant-5-prime, upstream-variant-2KB, intron-variant
rs850603 -- 116,383,571(+) gccca(A/G)gattt intron-variant
rs850605 -- 116,383,848(+) CTTTG(A/C)TTATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP1A1 Gene

Variant ID Type Subtype PubMed ID
nsv2533 CNV Insertion 18451855

Relevant External Links for ATP1A1 Gene

HapMap Linkage Disequilibrium report
ATP1A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP1A1 Gene

Disorders for ATP1A1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for ATP1A1 Gene in MalaCards »

(1) Disease for ATP1A1 Gene

Relevant External Links for ATP1A1

Genetic Association Database (GAD)
ATP1A1
Human Genome Epidemiology (HuGE) Navigator
ATP1A1
genes like me logo Genes that share disorders with ATP1A1: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for ATP1A1 Gene

Publications for ATP1A1 Gene

  1. The human Na, K-ATPase alpha 1 gene: characterization of the 5'- flanking region and identification of a restriction fragment length polymorphism. (PMID: 1970326) Shull M.M. … Lingrel J.B. (Genomics 1990) 3 4 23
  2. Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes. (PMID: 16430714) Kung A.W. … Chan V. (Clin. Endocrinol. (Oxf) 2006) 3 23 48
  3. Characterization and quantification of full-length and truncated Na,K-ATPase alpha 1 and beta 1 RNA transcripts expressed in human retinal pigment epithelium. (PMID: 7536695) Ruiz A. … Bok D. (Gene 1995) 3 4 23
  4. Isoform specificity of cardiac glycosides binding to human Na+,K+-ATPase alpha1beta1, alpha2beta1 and alpha3beta1. (PMID: 19751721) Hauck C. … MA1ller-Ehmsen J. (Eur. J. Pharmacol. 2009) 3 25 26
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4

Products for ATP1A1 Gene

Sources for ATP1A1 Gene

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