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Aliases for ATP1A1 Gene

Aliases for ATP1A1 Gene

  • ATPase Na+/K+ Transporting Subunit Alpha 1 2 3 5
  • Sodium Pump Subunit Alpha-1 2 3 4
  • Sodium/Potassium-Transporting ATPase Subunit Alpha-1 2 3
  • Sodium-Potassium ATPase Catalytic Subunit Alpha-1 2 3
  • ATPase, Na+/K+ Transporting, Alpha 1 Polypeptide 2 3
  • Na(+)/K(+) ATPase Alpha-1 Subunit 3 4
  • Na,K-ATPase Catalytic Subunit Alpha-A Protein 3
  • Sodium-Potassium-ATPase, Alpha 1 Polypeptide 3
  • Na, K-ATPase, Alpha-A Catalytic Polypeptide 3
  • Na,K-ATPase Alpha-1 Subunit 3
  • Na+/K+ ATPase 1 3
  • EC 3.6.3.9 4

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 Aldosterone-Producing Adenoma and Thyrotoxic Periodic Paralysis. Among its related pathways are Development_Leptin signaling via PI3K-dependent pathway and Cytoskeletal Signaling. Gene Ontology (GO) annotations related to this gene include nucleotide binding and protein domain specific binding. An important paralog of this gene is ATP1A3.

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

Additional gene information for ATP1A1 Gene

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

Genomics for ATP1A1 Gene

GeneHancer (GH) Regulatory Elements for ATP1A1 Gene

Promoters and enhancers for ATP1A1 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
GH01J116371 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 656.7 +4.7 4672 9.9 HDGF HNRNPUL1 CLOCK FOXA2 SMAD1 ARNT ZFP64 ARID4B SIN3A ZNF2 ATP1A1 ATP1A1-AS1 CD58 TRIM45 NAP1L4P1 SLC22A15 GC01P116389 GC01P116388
GH01J116491 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 16 +123.5 123482 7.5 HDGF DMAP1 YY1 TCF12 E2F8 ARID2 ZNF143 FOS ATF7 RXRA CD58 ATP1A1 ENSG00000224950 ATP1A1-AS1 LINC01762
GH01J116555 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 14.5 +186.0 185970 6.3 HDGF PKNOX1 SMAD1 ZNF2 IRF4 ZNF207 ZNF143 FOS JUNB ZNF592 MIR548AC GC01P116556 CD58 ATP1A1 CD2 ATP1A1-AS1 CD101
GH01J116488 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 13.9 +117.5 117499 3.4 FOXA2 MLX ARID4B DMAP1 IRF4 FOS NFKBIZ JUNB MIER2 PPARG CD58 ATP1A1 ATP1A1-AS1 ENSG00000224950 LINC01762
GH01J116481 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.8 +111.4 111375 4.6 HDGF FOXA2 MLX ARNT ARID4B ZNF48 ARID2 ZNF143 ATF7 RXRA ATP1A1-AS1 ATP1A1 CASQ2 TRIM45 LINC01762 ENSG00000224950
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP1A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATP1A1 gene promoter:
  • p53
  • E47
  • Tal-1
  • NF-1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • GATA-1
  • aMEF-2

Genomic Locations for ATP1A1 Gene

Genomic Locations for ATP1A1 Gene
chr1:116,372,185-116,410,261
(GRCh38/hg38)
Size:
38,077 bases
Orientation:
Plus strand
chr1:116,915,290-116,952,883
(GRCh37/hg19)
Size:
37,594 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:
    • The sodium/potassium-transporting ATPase is composed of a catalytic alpha subunit, an auxiliary non-catalytic beta subunit and an additional regulatory subunit. Interacts with regulatory subunit FXYD1 (By similarity). Interacts with regulatory subunit FXYD3 (PubMed:21454534). Interacts with SIK1 (By similarity). Binds the HLA class II histocompatibility antigen DR1 (PubMed:1380674). Interacts with SLC35G1 and STIM1 (PubMed:22084111).

    Alternative splice isoforms for ATP1A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP1A1 Gene

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 posLast=10191019, Lys683, posLast=671671, posLast=508508, Lys494, Lys476, Lys468, posLast=444444, Lys177, posLast=5454, and Lys45
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ATP1A1 Gene

Domains & Families for ATP1A1 Gene

Gene Families for ATP1A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

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

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

Enzyme Numbers (IUBMB) for ATP1A1 Gene

Phenotypes From GWAS Catalog for ATP1A1 Gene

Gene Ontology (GO) - Molecular Function for ATP1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005391 contributes_to sodium:potassium-exchanging ATPase activity ISS,TAS --
GO:0005515 protein binding IPI 11027149
GO:0005524 ATP binding ISS --
GO:0016787 hydrolase activity IEA --
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

  • Taconic Biosciences Mouse Models for ATP1A1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP1A1

Clone 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, sarcolemma; 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
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 ATP1A1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 3
golgi apparatus 3
endosome 2
nucleus 1
cytosol 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,IEA --
GO:0005794 Golgi apparatus IEA,ISS --
GO:0005886 plasma membrane TAS --
GO:0005890 sodium:potassium-exchanging ATPase complex TAS,ISS --
genes like me logo Genes that share ontologies with ATP1A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP1A1 Gene

Pathways & Interactions for ATP1A1 Gene

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

Pathways by source for ATP1A1 Gene

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,IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0006814 sodium ion transport IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ouabain Approved Pharma binder, Target, inhibitor Na+/K+ ATPase inhibitor 0
Digoxin Approved Pharma inhibitor, Target Na+/K+ ATPase inhibitor 146
Acetyldigitoxin Approved Pharma inhibitor, Target 0
Almitrine Approved Pharma binder, Target 0
Bepridil Approved, Withdrawn Pharma Pore Blocker, blocker, Target, inhibitor 0

(3) Additional Compounds for ATP1A1 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
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14265-44-2
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5

(4) Tocris Compounds for ATP1A1 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 ATP1A1: view

Transcripts for ATP1A1 Gene

Unigene Clusters for ATP1A1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP1A1

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ATP1A1 Gene



Protein tissue co-expression partners for ATP1A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ATP1A1 Gene:

ATP1A1

SOURCE GeneReport for Unigene cluster for ATP1A1 Gene:

Hs.371889

Evidence on tissue expression from TISSUES for ATP1A1 Gene

  • Skin(5)
  • Nervous system(5)
  • Eye(4.8)
  • Intestine(4.8)
  • Liver(4.7)
  • Kidney(4.5)
  • Pancreas(4.3)
  • Lung(4.2)
  • Adrenal gland(3.2)
  • Stomach(3)
  • Blood(2.9)
  • Thyroid gland(2.6)
  • Heart(2.5)
  • Gall bladder(2.4)
  • Muscle(2.2)
  • Bone(2)
genes like me logo Genes that share expression patterns with ATP1A1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 33
  • 99.54 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia mdo-mir-7282 34
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 93 (a)
OneToMany
-- 34
  • 58 (a)
OneToMany
-- 34
  • 56 (a)
OneToMany
-- 34
  • 55 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ATP1A1 34 33
  • 90.96 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ATP1A1 34 33
  • 89.88 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Atp1a1 16 34 33
  • 89.28 (n)
rat
(Rattus norvegicus)
Mammalia Atp1a1 33
  • 88.95 (n)
chicken
(Gallus gallus)
Aves ATP1A1 34 33
  • 81.06 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP1A1 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp1a1 33
  • 79.24 (n)
MGC76277 33
zebrafish
(Danio rerio)
Actinopterygii atp1a1b 34
  • 88 (a)
OneToMany
atp1a1a.5 34
  • 79 (a)
OneToMany
atp1a1a.2 34
  • 79 (a)
OneToMany
atp1a1a.1 34 33 33
  • 77.45 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Atpalpha 34 35
  • 74 (a)
OneToMany
CG17923 35
  • 62 (a)
CG3701 35
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea eat-6 34 35
  • 74 (a)
OneToMany
C02E7.1 35
  • 35 (a)
Y105E8A.12 35
  • 31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENA5 34
  • 27 (a)
ManyToMany
ENA1 34
  • 27 (a)
ManyToMany
ENA2 34
  • 27 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 67 (a)
OneToMany
Cin.5338 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5338 33
Species where no ortholog for ATP1A1 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ATP1A1: view image

Paralogs for ATP1A1 Gene

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

  • AT1A1_HUMAN
  • L0R4U4_HUMAN
  • Q13818_HUMAN
  • Q58I23_HUMAN
  • Q5TC01_HUMAN
  • Q5TC02_HUMAN
  • Q5TC05_HUMAN
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 Variation AA Info Type
rs11540945 pathogenic, Aldosterone Producing Adrenal Cortex Adenoma 116,387,415(+) T/G coding_sequence_variant, missense_variant
rs193920762 uncertain-significance, Malignant tumor of prostate 116,388,207(+) C/T coding_sequence_variant, missense_variant
rs724160008 pathogenic, Aldosterone Producing Adrenal Cortex Adenoma 116,387,401(+) GTTCTCAATGTTACTGT/GT coding_sequence_variant, inframe_deletion
rs724160010 pathogenic, Aldosterone Producing Adrenal Cortex Adenoma 116,389,679(+) T/G coding_sequence_variant, missense_variant
rs1000050482 -- 116,377,256(+) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_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)

Additional Variant Information for ATP1A1 Gene

Human Gene Mutation Database (HGMD)
ATP1A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP1A1

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

Disorders for ATP1A1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ATP1A1 Gene - From: HGMD, DISEASES, and GeneCards

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

Additional Disease Information for ATP1A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 AW … Chan V (Clinical endocrinology 2006) 3 22 44 58
  2. 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 22 58
  3. 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 MM … Lingrel JB (Genomics 1990) 3 4 22 58
  4. POST, partner of stromal interaction molecule 1 (STIM1), targets STIM1 to multiple transporters. (PMID: 22084111) Krapivinsky G … Clapham DE (Proceedings of the National Academy of Sciences of the United States of America 2011) 3 4 58
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for ATP1A1 Gene

Sources for ATP1A1 Gene

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