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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-Transporting ATPase Subunit Alpha-3 2 3
  • 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
  • DYT12 3 6
  • AHC2 3 6
  • RDP 3 6
  • 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

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 alternating hemiplegia of childhood 2 and dystonia-12. Among its related pathways are SIDS Susceptibility Pathways and Neuropathic Pain-Signaling in Dorsal Horn Neurons. GO annotations related to this gene include sodium:potassium-exchanging 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

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

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

Genomic Location for ATP1A3 Gene

Start:
41,966,476 bp from pter
End:
41,997,497 bp from pter
Size:
31,022 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

  • Ubiquitination at Lys152, Lys349, Lys367, Lys595, Lys602, Lys615, Lys619, Lys688, and Lys833
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP1A3 Gene

Domains for ATP1A3 Gene

Gene Families for ATP1A3 Gene

HGNC:
  • PATP :ATPases / P-type
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

P13637

UniProtKB/Swiss-Prot:

AT1A3_HUMAN :
  • P13637
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:0015077 monovalent inorganic cation transmembrane transporter activity --
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:

miRNA for ATP1A3 Gene

miRTarBase miRNAs that target ATP1A3

No data available for Transcription Factor Targeting 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
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 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:0006754 ATP biosynthetic process --
GO:0006813 potassium ion transport --
GO:0006814 sodium ion transport --
GO:0006883 cellular sodium ion homeostasis IDA 10636900
GO:0007613 memory IEA --
genes like me logo Genes that share ontologies with ATP1A3: view

Compounds for ATP1A3 Gene

(3) Tocris Compounds for ATP1A3 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]

(7) HMDB Compounds for ATP1A3 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Magnesium
  • Magnesium
7439-95-4
Phosphate
  • NFB Orthophosphate
14265-44-2
Potassium
  • K+
7440-09-7
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) (6.1), Brain - Anterior cingulate cortex (BA24) (5.5), Brain - Cortex (5.0), Brain - Hippocampus (4.9), and Brain - Hypothalamus (4.8).

Integrated Proteomics: protein expression 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 expressions with ATP1A3: view

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
chimpanzee
(Pan troglodytes)
Mammalia ATP1A3 35
  • 95.91 (n)
  • 95.64 (a)
ATP1A3 36
  • 100 (a)
OneToOne
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
platypus
(Ornithorhynchus anatinus)
Mammalia ATP1A3 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp1a3 35
  • 90.27 (n)
  • 99.51 (a)
chicken
(Gallus gallus)
Aves ATP1A3 35
  • 85.64 (n)
  • 97.29 (a)
lizard
(Anolis carolinensis)
Reptilia ATP1A3 36
  • 97 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia atp1a3-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia atp1a3 35
  • 79.77 (n)
  • 92.49 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12137 35
zebrafish
(Danio rerio)
Actinopterygii atp1a3a 35
atp1a3a 36
  • 90 (a)
OneToMany
atp1a3b 35
  • 79.5 (n)
  • 91.59 (a)
atp1a3b 36
  • 91 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002858 35
  • 70.74 (n)
  • 77.05 (a)
fruit fly
(Drosophila melanogaster)
Insecta Atpalpha 35
  • 71.72 (n)
  • 76.34 (a)
Atpalpha 36
  • 75 (a)
OneToMany
Atpalpha 37
  • 76 (a)
CG17923 37
  • 62 (a)
CG3701 37
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea eat-6 35
  • 67.04 (n)
  • 73.46 (a)
eat-6 36
  • 73 (a)
OneToMany
Y105E8A.12 37
  • 30 (a)
C02E7.1 37
  • 34 (a)
eat-6 37
  • 72 (a)
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

Selected 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
rs868582 -- 41,994,304(-) GGCGG(C/G)GCCCC upstream-variant-2KB
rs919390 -- 41,966,898(-) GTCCC(C/G)CAGGC utr-variant-3-prime, reference, missense
rs2217342 Likely benign 41,985,364(-) TGCAC(G/T)CACGA synonymous-codon, reference
rs2288507 -- 41,978,181(-) GACGC(A/G)GTGGG synonymous-codon, reference
rs2288508 -- 41,967,414(-) CTGCG(C/T)CCCCT 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

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

(2) OMIM Diseases for ATP1A3 Gene (182350)

UniProtKB/Swiss-Prot

AT1A3_HUMAN
  • 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.
  • 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.

(4) University of Copenhagen DISEASES for ATP1A3 Gene

(2) Novoseek inferred disease relationships for ATP1A3 Gene

Disease -log(P) Hits PubMed IDs
parkinsonism 71.6 1
movement disorders 66.5 1

Relevant External Links for ATP1A3

GeneTests
ATP1A3
GeneReviews
ATP1A3
Genetic Association Database (GAD)
ATP1A3
Human Genome Epidemiology (HuGE) Navigator
ATP1A3
genes like me logo Genes that share disorders with ATP1A3: view

Publications for ATP1A3 Gene

  1. Mutations in the Na(+)/K(+)-ATPase alpha-3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. (PMID: 15260953) de Carvalho Aguiar P. … Ozelius L.J. (Neuron 2004) 3 4 23
  2. 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 3 23
  3. Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia-parkinsonism kindred. (PMID: 17516473) McKeon A. … Pittock S.J. (Mov. Disord. 2007) 3 23
  4. ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism. (PMID: 17595045) Lee J.Y. … Jeon B.S. (Mov. Disord. 2007) 3 23
  5. Family of human Na(+),K(+)-ATPase genes. Structure of the gene of isoform alpha-III. (PMID: 2834163) Sverdlov E.D. … Ovchinnikov Y.A. (Dokl. Akad. Nauk SSSR 1987) 3 4

Products for ATP1A3 Gene

  • antibodies-online proteins for ATP1A3
  • antibodies-online antibodies for ATP1A3
  • antibodies-online kits for ATP1A3

Sources for ATP1A3 Gene

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