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Aliases for ATP1A3 Gene

Aliases for ATP1A3 Gene

  • ATPase, Na+/K+ Transporting, Alpha 3 Polypeptide 2 3
  • Sodium Pump Subunit Alpha-3 2 3 4
  • Sodium-Potassium ATPase Catalytic Subunit Alpha-3 2 3
  • Na(+)/K(+) ATPase Alpha(III) Subunit 3 4
  • Na(+)/K(+) ATPase Alpha-3 Subunit 3 4
  • EC 3.6.3.9 4 63
  • Sodium/Potassium-Transporting ATPase Subunit Alpha-3 2
  • Sodium/Potassium-Transporting ATPase Alpha-3 Chain 3
  • Sodium-Potassium-ATPase, Alpha 3 Polypeptide 3
  • Na+/K+ ATPase 3 3
  • Dystonia 12 2
  • EC 3.6.3 63
  • CAPOS 3
  • DYT12 3
  • AHC2 3
  • RDP 3

External Ids for ATP1A3 Gene

Previous HGNC Symbols for ATP1A3 Gene

  • DYT12

Previous GeneCards Identifiers for ATP1A3 Gene

  • GC19U990006
  • GC19M042862
  • GC19M047146
  • GC19M047162
  • GC19M042470
  • GC19M038902

Summaries for ATP1A3 Gene

Entrez Gene Summary for ATP1A3 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 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

GeneCards Summary for ATP1A3 Gene

ATP1A3 (ATPase, Na+/K+ Transporting, Alpha 3 Polypeptide) is a Protein Coding gene. Diseases associated with ATP1A3 include dystonia-12 and alternating hemiplegia of childhood 2. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and SIDS Susceptibility Pathways. GO annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP4A.

UniProtKB/Swiss-Prot for ATP1A3 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 ATP1A3 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 ATP1A3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP1A3 Gene

Genomics for ATP1A3 Gene

Regulatory Elements for ATP1A3 Gene

Epigenetics Products

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

Genomic Location for ATP1A3 Gene

Chromosome:
19
Start:
41,966,582 bp from pter
End:
41,997,497 bp from pter
Size:
30,916 bases
Orientation:
Minus strand

Genomic View for ATP1A3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP1A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP1A3 Gene

Proteins for ATP1A3 Gene

  • Protein details for ATP1A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13637-AT1A3_HUMAN
    Recommended name:
    Sodium/potassium-transporting ATPase subunit alpha-3
    Protein Accession:
    P13637
    Secondary Accessions:
    • B7Z2T0
    • B7Z401
    • F5H6J6
    • Q16732
    • Q16735
    • Q969K5

    Protein attributes for ATP1A3 Gene

    Size:
    1013 amino acids
    Molecular mass:
    111749 Da
    Quaternary structure:
    • Composed of three subunits: alpha (catalytic), beta and gamma

    Alternative splice isoforms for ATP1A3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP1A3 Gene

Proteomics data for ATP1A3 Gene at MOPED

Post-translational modifications for ATP1A3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP1A3 Gene

Domains & Families for ATP1A3 Gene

Gene Families for ATP1A3 Gene

HGNC:
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

P13637

UniProtKB/Swiss-Prot:

AT1A3_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 ATP1A3: view

Function for ATP1A3 Gene

Molecular function for ATP1A3 Gene

GENATLAS Biochemistry:
ATPase,Na+K+,alpha 3 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 ATP1A3 Gene

Gene Ontology (GO) - Molecular Function for ATP1A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0005391 sodium:potassium-exchanging ATPase activity IMP 15260953
GO:0005515 protein binding --
GO:0005524 ATP binding NAS 15260953
GO:0031748 D1 dopamine receptor binding IEA --
genes like me logo Genes that share ontologies with ATP1A3: view
genes like me logo Genes that share phenotypes with ATP1A3: view

Animal Models for ATP1A3 Gene

MGI Knock Outs for ATP1A3:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for ATP1A3 Gene

Localization for ATP1A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP1A3 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP1A3 Gene COMPARTMENTS Subcellular localization image for ATP1A3 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
golgi apparatus 5
plasma membrane 5
nucleus 2

Gene Ontology (GO) - Cellular Components for ATP1A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm --
GO:0005783 endoplasmic reticulum IDA 15260953
GO:0005794 Golgi apparatus IDA 15260953
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with ATP1A3: view

Pathways & Interactions for ATP1A3 Gene

genes like me logo Genes that share pathways with ATP1A3: view

Gene Ontology (GO) - Biological Process for ATP1A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006813 potassium ion transport --
GO:0006814 sodium ion transport --
GO:0006883 cellular sodium ion homeostasis IDA 10636900
GO:0007613 memory IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ATP1A3: view

No data available for SIGNOR curated interactions for ATP1A3 Gene

Drugs & Compounds for ATP1A3 Gene

(5) Drugs for ATP1A3 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Digoxin Approved Pharma Na+/K+ ATPase inhibitor 118
Ouabain Approved Pharma Na+/K+ ATPase inhibitor 0
Potassium Experimental Pharma 0
Magnesium Nutra 0

(5) Additional Compounds for ATP1A3 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
Antagonist, Gating inhibitor 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
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
Rostafuroxin
156722-18-8
genes like me logo Genes that share compounds with ATP1A3: view

Transcripts for ATP1A3 Gene

Unigene Clusters for ATP1A3 Gene

ATPase, Na+/K+ transporting, alpha 3 polypeptide:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATP1A3 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - - -
SP2:
SP3: - - -
SP4: - -
SP5: - - -
SP6:
SP7: -

ExUns: 21 ^ 22 ^ 23a · 23b ^ 24
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for ATP1A3 Gene

GeneLoc Exon Structure for
ATP1A3
ECgene alternative splicing isoforms for
ATP1A3

Expression for ATP1A3 Gene

mRNA expression in normal human tissues for ATP1A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP1A3 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.1), Brain - Anterior cingulate cortex (BA24) (x5.5), Brain - Cortex (x5.0), Brain - Hippocampus (x4.9), and Brain - Hypothalamus (x4.8).

Protein differential expression in normal tissues from HIPED for ATP1A3 Gene

This gene is overexpressed in Retina (17.6), Brain (16.5), Frontal cortex (15.6), Spinal cord (10.3), and Fetal Brain (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP1A3 Gene



SOURCE GeneReport for Unigene cluster for ATP1A3 Gene Hs.515427

genes like me logo Genes that share expression patterns with ATP1A3: view

Protein tissue co-expression partners for ATP1A3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for ATP1A3 Gene

Orthologs for ATP1A3 Gene

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

Orthologs for ATP1A3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATP1A3 35
  • 93.04 (n)
  • 99.39 (a)
ATP1A3 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP1A3 35
  • 92.98 (n)
  • 99.61 (a)
ATP1A3 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp1a3 35
  • 90.83 (n)
  • 99.6 (a)
Atp1a3 16
Atp1a3 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP1A3 35
  • 95.91 (n)
  • 95.64 (a)
ATP1A3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp1a3 35
  • 90.27 (n)
  • 99.51 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia ATP1A3 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP1A3 35
  • 85.64 (n)
  • 97.29 (a)
lizard
(Anolis carolinensis)
Reptilia ATP1A3 36
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp1a3 35
  • 79.77 (n)
  • 92.49 (a)
African clawed frog
(Xenopus laevis)
Amphibia atp1a3-prov 35
zebrafish
(Danio rerio)
Actinopterygii atp1a3a 35
atp1a3b 35
  • 79.5 (n)
  • 91.59 (a)
atp1a3a 36
  • 90 (a)
OneToMany
atp1a3b 36
  • 91 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12137 35
fruit fly
(Drosophila melanogaster)
Insecta Atpalpha 37
  • 76 (a)
CG17923 37
  • 62 (a)
CG3701 37
  • 31 (a)
Atpalpha 35
  • 71.72 (n)
  • 76.34 (a)
Atpalpha 36
  • 75 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002858 35
  • 70.74 (n)
  • 77.05 (a)
worm
(Caenorhabditis elegans)
Secernentea C02E7.1 37
  • 34 (a)
eat-6 37
  • 72 (a)
Y105E8A.12 37
  • 30 (a)
eat-6 35
  • 67.04 (n)
  • 73.46 (a)
eat-6 36
  • 73 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENA1 36
  • 26 (a)
ManyToMany
ENA2 36
  • 26 (a)
ManyToMany
ENA5 36
  • 26 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 67 (a)
OneToMany
Species with no ortholog for ATP1A3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 ATP1A3 Gene

ENSEMBL:
Gene Tree for ATP1A3 (if available)
TreeFam:
Gene Tree for ATP1A3 (if available)

Paralogs for ATP1A3 Gene

Paralogs for ATP1A3 Gene

(7) SIMAP similar genes for ATP1A3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ATP1A3: view

Variants for ATP1A3 Gene

Sequence variations from dbSNP and Humsavar for ATP1A3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs919390 -- 41,966,898(-) GTCCC(C/G)CAGGC utr-variant-3-prime
rs2217342 Likely benign 41,985,364(-) TGCAC(A/G/T)CACGA synonymous-codon, reference
rs2317634 -- 41,984,145(+) caagc(A/G)gtcct intron-variant
rs3760641 -- 41,988,978(+) CTCAC(C/T)CTGAT intron-variant
rs4803517 -- 41,972,201(+) gccgc(A/G)attgt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP1A3 Gene

Variant ID Type Subtype PubMed ID
nsv522854 CNV Gain 19592680
dgv3882n71 CNV Loss 21882294
dgv3883n71 CNV Loss 21882294
nsv520239 CNV Loss 19592680
esv992854 OTHER Inversion 20482838
esv2678217 CNV Deletion 23128226
nsv911782 CNV Loss 21882294
nsv138051 CNV Loss 16902084
esv2718591 CNV Deletion 23290073

Variation tolerance for ATP1A3 Gene

Residual Variation Intolerance Score: 2.16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.48; 10.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP1A3 Gene

HapMap Linkage Disequilibrium report
ATP1A3
Human Gene Mutation Database (HGMD)
ATP1A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP1A3 Gene

Disorders for ATP1A3 Gene

MalaCards: The human disease database

(21) MalaCards diseases for ATP1A3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

UniProtKB/Swiss-Prot

AT1A3_HUMAN
  • Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]: A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age. {ECO:0000269 PubMed:22842232, ECO:0000269 PubMed:22850527, ECO:0000269 PubMed:23409136}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) [MIM:601338]: An autosomal dominant neurologic disorder characterized by relapsing and partially remitting, early-onset cerebellar ataxia following a febrile illness. Other features include progressive optic atrophy and sensorineural hearing loss, generalized hypotonia, areflexia and pes cavus without evidence of a peripheral neuropathy on neurophysiological studies. {ECO:0000269 PubMed:24468074}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dystonia 12 (DYT12) [MIM:128235]: An autosomal dominant dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT12 patients develop dystonia and parkinsonism between 15 and 45 years of age. The disease is characterized by an unusually rapid evolution of signs and symptoms. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability. {ECO:0000269 PubMed:15260953, ECO:0000269 PubMed:19351654, ECO:0000269 PubMed:19652145}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATP1A3

Genetic Association Database (GAD)
ATP1A3
Human Genome Epidemiology (HuGE) Navigator
ATP1A3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP1A3
genes like me logo Genes that share disorders with ATP1A3: view

No data available for Genatlas for ATP1A3 Gene

Publications for ATP1A3 Gene

  1. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. (PMID: 17282997) Brashear A. … Ozelius L.J. (Brain 2007) 2 23 67
  2. Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity. (PMID: 19455355) Ashmore L.J. … Palladino M.J. (Hum. Genet. 2009) 23 67
  3. [123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism. (PMID: 18675996) Zanotti-Fregonara P. … Roze E. (J. Neurol. Sci. 2008) 23 67
  4. Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia-parkinsonism kindred. (PMID: 17516473) McKeon A. … Pittock S.J. (Mov. Disord. 2007) 23 67
  5. ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism. (PMID: 17595045) Lee J.Y. … Jeon B.S. (Mov. Disord. 2007) 23 67

Products for ATP1A3 Gene

Sources for ATP1A3 Gene

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