Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ATP1A1 Gene

Aliases for ATP1A1 Gene

  • ATPase Na+/K+ Transporting Subunit Alpha 1 2 3
  • ATPase, Na+/K+ Transporting, Alpha 1 Polypeptide 2 5
  • 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 Subunit Alpha 1) is a Protein Coding gene. Diseases associated with ATP1A1 include thyrotoxic periodic paralysis and endocrine organ benign neoplasm. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Bile secretion. GO annotations related to this gene include nucleotide binding and protein domain specific binding. An important paralog of this gene is ATP12A.

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

  • 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 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

Genomic Location for ATP1A1 Gene

Chromosome:
1
Start:
116,372,185 bp from pter
End:
116,410,261 bp from pter
Size:
38,077 bases
Orientation:
Plus strand

Genomic View for ATP1A1 Gene

Genes around ATP1A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP1A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 45, Lys 54, Lys 177, Lys 444, Lys 468, Lys 476, Lys 494, Lys 508, Lys 671, Lys 683, and Lys 1019
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP1A1 Gene

Domains & Families for ATP1A1 Gene

Gene Families for ATP1A1 Gene

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:0005524 ATP binding IEA,ISS --
GO:0030955 potassium ion binding IEA,ISS --
GO:0031402 sodium ion binding IEA,ISS --
GO:0043531 ADP binding 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

In Situ Assay Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , 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. {ECO:0000269 PubMed:17081065}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP1A1 Gene COMPARTMENTS Subcellular localization image for ATP1A1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
endoplasmic reticulum 3
golgi apparatus 3
endosome 2
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:0014704 intercalated disc IEA --
GO:0042383 sarcolemma IEA,ISS --
GO:0043209 myelin sheath IEA --
GO:0045121 membrane raft IEA --
genes like me logo Genes that share ontologies with ATP1A1: view

Pathways & Interactions for ATP1A1 Gene

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

Gene Ontology (GO) - Biological Process for ATP1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002028 regulation of sodium ion transport IEA,ISS --
GO:0016311 dephosphorylation IEA --
GO:0030007 cellular potassium ion homeostasis IDA 10636900
GO:0031947 negative regulation of glucocorticoid biosynthetic process IEA --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with ATP1A1: view

No data available for SIGNOR curated interactions for ATP1A1 Gene

Drugs & Compounds for ATP1A1 Gene

(23) Drugs for ATP1A1 Gene - From: DrugBank, HMDB, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ouabain Approved Pharma binder, Target, inhibitor 0
Acetyldigitoxin Approved Pharma inhibitor, Target 0
Almitrine Approved Pharma binder, Target 0
Bepridil Approved, Withdrawn Pharma Pore Blocker, blocker, Target, inhibitor 0
Deslanoside Approved Pharma binder, Target, inhibitor 0

(7) Additional Compounds for ATP1A1 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
Aluminum
  • Al
  • Alloy
  • ALN
  • Alugel
  • Alum
7429-90-5
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
sodium
  • Sodium
  • Sodium ion
7440-23-5
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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:

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

Protein differential expression in normal tissues from HIPED for ATP1A1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ATP1A1: view

Protein tissue co-expression partners for ATP1A1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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
chimpanzee
(Pan troglodytes)
Mammalia ATP1A1 35
  • 99.54 (n)
  • 99.61 (a)
ATP1A1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP1A1 36
  • 97 (a)
OneToOne
ATP1A1 35
  • 89.88 (n)
  • 97.65 (a)
dog
(Canis familiaris)
Mammalia ATP1A1 35
  • 90.96 (n)
  • 97.65 (a)
ATP1A1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp1a1 16
Atp1a1 35
  • 89.28 (n)
  • 96.87 (a)
Atp1a1 36
  • 97 (a)
OneToOne
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
rat
(Rattus norvegicus)
Mammalia Atp1a1 35
  • 88.95 (n)
  • 96.77 (a)
chicken
(Gallus gallus)
Aves ATP1A1 36
  • 93 (a)
OneToOne
ATP1A1 35
  • 81.06 (n)
  • 92.56 (a)
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 36
  • 74 (a)
OneToMany
Atpalpha 37
  • 76 (a)
CG17923 37
  • 62 (a)
CG3701 37
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea eat-6 36
  • 74 (a)
OneToMany
C02E7.1 37
  • 35 (a)
eat-6 37
  • 73 (a)
Y105E8A.12 37
  • 31 (a)
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
rs12564026 - 116,384,799(+) ACTTA(G/T)CCTTG reference, missense
rs850604 -- 116,383,681(+) TGGAA(G/T)GCTGC intron-variant
rs850605 -- 116,383,848(+) CTTTG(A/C)TTATG intron-variant
rs850606 -- 116,383,936(+) TACCA(A/G)AATCC intron-variant
rs850607 -- 116,383,962(+) TCAGT(A/T)TCAGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv2533 CNV Insertion 18451855

Variation tolerance for ATP1A1 Gene

Residual Variation Intolerance Score: 4.78% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.17; 23.59% of all genes are more intolerant (likely to be disease-causing)

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

(2) MalaCards diseases for ATP1A1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
thyrotoxic periodic paralysis
  • thyrotoxic hypokalemic periodic paralysis
endocrine organ benign neoplasm
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ATP1A1

Genetic Association Database (GAD)
ATP1A1
Human Genome Epidemiology (HuGE) Navigator
ATP1A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP1A1
genes like me logo Genes that share disorders with ATP1A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP1A1 Gene

Publications for ATP1A1 Gene

  1. Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes. (PMID: 16430714) Kung A.W. … Chan V. (Clin. Endocrinol. (Oxf) 2006) 3 23 48 67
  2. 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
  3. Downmodulation of mitochondrial F0F1 ATP synthase by diazoxide in cardiac myoblasts: a dual effect of the drug. (PMID: 17287451) Comelli M. … Mavelli I. (Am. J. Physiol. Heart Circ. Physiol. 2007) 25 26
  4. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26
  5. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26

Products for ATP1A1 Gene

Sources for ATP1A1 Gene

Back to Top

Content