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... See more...

Aliases for ATP1A3 Gene

Aliases for ATP1A3 Gene

  • ATPase Na+/K+ Transporting Subunit Alpha 3 2 3 5
  • Sodium/Potassium-Transporting ATPase Subunit Alpha-3 2 3 4
  • Sodium Pump Subunit Alpha-3 2 3 4
  • Sodium-Potassium ATPase Catalytic Subunit Alpha-3 2 3
  • ATPase, Na+/K+ Transporting, Alpha 3 Polypeptide 2 3
  • Na(+)/K(+) ATPase Alpha(III) Subunit 3 4
  • Na(+)/K(+) ATPase Alpha-3 Subunit 3 4
  • Na+, K+ Activated Adenosine Triphosphatase Alpha Subunit 3
  • Sodium/Potassium-Transporting ATPase Alpha-3 Chain 3
  • Sodium-Potassium-ATPase, Alpha 3 Polypeptide 3
  • Na+/K+ ATPase 3 3
  • Dystonia 12 2
  • EC 7.2.2.13 4
  • EC 3.6.3.9 51
  • EC 3.6.3 51
  • ATP1A1 3
  • ATP1A3 5
  • 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 Subunit Alpha 3) is a Protein Coding gene. Diseases associated with ATP1A3 include Dystonia 12 and Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss. Among its related pathways are Collagen chain trimerization and Cardiac muscle contraction. Gene Ontology (GO) annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ENSG00000285505.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP1A3 Gene

Genomics for ATP1A3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP1A3 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
GH19J041993 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 600.7 +3.8 3796 1.8 SP1 ZNF692 ZIC2 ZSCAN4 PKNOX1 POLR2A PATZ1 TCF12 REST ZNF501 ATP1A3 ENSG00000285505 lnc-GRIK5-1 MEGF8 ZNF574 GRIK5 CIC RABAC1
GH19J041997 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE 600.7 +0.3 322 0.9 REST ZNF692 PRDM1 POLR2A ZNF501 ZNF600 KLF9 ZBTB20 SP2 UBTF ATP1A3 ZNF526 HNRNPUL1 CCDC97 MEGF8 GRIK5 TMEM145 ENSG00000285505
GH19J041998 Promoter 1 Ensembl 600.7 -1.0 -1004 1.4 CTCF ZNF512 ZNF692 ZIC2 PATZ1 REST POLR2A EZH2 ZNF561 NRF1 ATP1A3 piR-43649 ZNF574 GRIK5
GH19J041996 Enhancer 0.8 FANTOM5 ENCODE 602 +1.3 1346 0.3 RFX1 RFX5 PRDM1 PATZ1 CTBP1 BMI1 POLR2A RCOR1 SIN3A MXI1 ATP1A3 ENSG00000285505 GRIK5 DMRTC2 LYPD4 LIPE TMEM145
GH19J041967 Promoter/Enhancer 0.7 EPDnew ENCODE 600.3 +30.2 30183 1 NFE2 NRF1 EMSY ATP1A3 RABAC1 lnc-RABAC1-1 lnc-GRIK5-2 ENSG00000285505
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP1A3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP1A3

Top Transcription factor binding sites by QIAGEN in the ATP1A3 gene promoter:
  • AhR
  • AP-4
  • GATA-2
  • HNF-4alpha1
  • HNF-4alpha2
  • Ik-3
  • LCR-F1
  • Nkx2-5
  • Olf-1

Genomic Locations for ATP1A3 Gene

Genomic Locations for ATP1A3 Gene
chr19:41,966,582-41,997,497
(GRCh38/hg38)
Size:
30,916 bases
Orientation:
Minus strand
chr19:42,470,734-42,501,649
(GRCh37/hg19)
Size:
30,916 bases
Orientation:
Minus strand

Genomic View for ATP1A3 Gene

Genes around ATP1A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP1A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • 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.

    Alternative splice isoforms for ATP1A3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP1A3 Gene

Selected DME Specific Peptides for ATP1A3 Gene

P13637:
  • LLWIGAILCF
  • AVETLGS
  • DKLVNERLIS
  • PVSQVNPR
  • AYGQIGMIQALGGFF
  • VAGDASESALLKCIEL
  • DNLYLGIVL
  • HTEIVFARTSPQQKL
  • SSLTGES
  • NPLETRNI
  • TILCIDLGTD
  • YDEIRKL
  • LIFVYDE
  • GCKVDNSSLTGESEPQTRSPD
  • AVIFLIGIIVANVPEGLLATVTVCLTLTAKRMA
  • QGMKNKILIFGL
  • PADLRII
  • FFILSLIL
  • GKEQPLDEE
  • MVTGDHPITAKAIAKGVGIIS
  • SIVTGVEEGRLIFDNLKK
  • ESDIMKR
  • ADIGVAMG
  • KNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWF
  • LTPPPTTPEW
  • HGTDLKD
  • WTYEQRK
  • ITGVAVF
  • GDRVPAD
  • IVVVQWADL
  • PAISLAYE
  • GGFSILLW
  • DKTGTLT
  • LVMKGAPERILDRCS
  • RDLDDLKKEVAMTEHKMS
  • SMIDPPRAAVPDAV
  • ADTTEDQSG
  • VNPRDAKA
  • YTLTSNIPEI
  • VALRMYP
  • VMKGAPERIL
  • VLAAVVI
  • VFARTSPQQKL
  • ICKTRRNS
  • GKEQPLD
  • QLFGGFS
  • GRIATLASG
  • DDNFASI
  • TPIAIEIEHF
  • VGIISEG
  • LASGLEVG
  • PFNSTNK
  • ETALAAFL
  • NAYLELGG
  • LVMKGAPER
  • LCFLAYGI
  • KSSKIMESF
  • PADLRIIS
  • IIVANVPEGLLATVTV
  • TVMGRIA
  • GSDVSKQAADMILLDDNFASIVTGVEEGR
  • AKSSKIM
  • LTAKRMA
  • QSGTSFD
  • AENGFLP
  • WWFCAFPYS
  • SMIDPPR
  • TPEWVKFC
  • LSLILGY
  • TGDHPITA
  • ILGYTWL
  • VEFTCHT
  • FQQGMKN
  • VPQQALV
  • EADTTEDQSG
  • GPNALTPP
  • AADMILLDDNF
  • IPLPLGT
  • FFSTNCV
  • VQWADLII
  • LGGLGERVLGFC
  • LCNRAVF
  • DNQIHEADTTE
  • TNKYQLSIHETEDPNDNRYLLVMKGA
  • VAVTGDGVNDSPALKKADIG
  • LVGIRLNWDDR
  • EDSYGQQWT
  • RDGPNAL
  • KVAEIPFN
  • KNCLVKNLEAV
  • VVGDLVE
  • KTRRNSVFQQG
  • NDLEDSYGQ
  • TCHTAFF
  • LRMYPLK
  • EIPFNSTNKYQ
  • KCRSAGIKV

Post-translational modifications for ATP1A3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ATP1A3 Gene

Gene Families for ATP1A3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for ATP1A3 Gene

InterPro:
Blocks:
  • ATPase, E1-E2 type
  • Cation transporting ATPase, C-terminal
  • Sodium/potassium-transporting ATPase signature
  • E1-E2 ATPase-associated region
ProtoNet:

Suggested Antigen Peptide Sequences for ATP1A3 Gene

GenScript: Design optimal peptide antigens:
  • Sodium pump subunit alpha-3 (AT1A3_HUMAN)
  • cDNA FLJ59485, highly similar to Sodium/potassium-transporting ATPase alpha-3 chain (EC 3.6.3.9) (B7Z1Q9_HUMAN)
  • cDNA FLJ59513, highly similar to Sodium/potassium-transporting ATPase alpha-3 chain (EC 3.6.3.9) (B7Z2T0_HUMAN)
  • Na+/K+ transporting ATPase alpha 3 polypeptide (Q58I21_HUMAN)

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

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:
Reaction=ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate; Xref=Rhea:RHEA:18353, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29101, ChEBI:CHEBI:29103, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=7.2.2.13;.
GENATLAS Biochemistry:
ATPase,Na+K+,alpha 3 polypeptide

Enzyme Numbers (IUBMB) for ATP1A3 Gene

Phenotypes From GWAS Catalog for ATP1A3 Gene

Gene Ontology (GO) - Molecular Function for ATP1A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0001540 amyloid-beta binding TAS 26871627
GO:0005391 sodium:potassium-exchanging ATPase activity IBA,NAS 26224839
GO:0005524 ATP binding IEA,NAS 15260953
GO:0008556 potassium-transporting ATPase activity IEA --
genes like me logo Genes that share ontologies with ATP1A3: view
genes like me logo Genes that share phenotypes with ATP1A3: view

Human Phenotype Ontology for ATP1A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATP1A3 Gene

MGI Knock Outs for ATP1A3:

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP1A3

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP1A3

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
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 ATP1A3 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
golgi apparatus 5
extracellular 4
mitochondrion 2
nucleus 2
cytoskeleton 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ATP1A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment ISS --
GO:0005623 cell IEA --
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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP1A3 Gene

Pathways & Interactions for ATP1A3 Gene

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

Pathways by source for ATP1A3 Gene

2 Qiagen pathways for ATP1A3 Gene
  • Aldosterone Signaling in Epithelial Cells
  • Hepatic ABC Transporters

Gene Ontology (GO) - Biological Process for ATP1A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006883 cellular sodium ion homeostasis IBA,IDA 10636900
GO:0010248 establishment or maintenance of transmembrane electrochemical gradient 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

(10) Drugs for ATP1A3 Gene - From: DrugBank, ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ouabain Approved Pharma Target, inhibitor Na+/K+ ATPase inhibitor 0
Rubidium Rb-82 Approved, Investigational Pharma Carrier, substrate 0
Magnesium Approved, Experimental, Investigational Pharma 0
Potassium Approved, Experimental Pharma 0
Water Approved Pharma 0

(3) Additional Compounds for ATP1A3 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
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5

(4) Tocris Compounds for ATP1A3 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

(1) ApexBio Compounds for ATP1A3 Gene

Compound Action Cas Number
Istaroxime hydrochloride Inhibitor of Na+/K+ ATPase 374559-48-5
genes like me logo Genes that share compounds with ATP1A3: view

Drug Products

Transcripts for ATP1A3 Gene

mRNA/cDNA for ATP1A3 Gene

3 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP1A3

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

Expression for ATP1A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ATP1A3 Gene



Protein tissue co-expression partners for ATP1A3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP1A3

SOURCE GeneReport for Unigene cluster for ATP1A3 Gene:

Hs.515427

Evidence on tissue expression from TISSUES for ATP1A3 Gene

  • Nervous system(5)
  • Eye(4)
  • Heart(3.6)
  • Muscle(2.9)
  • Blood(2.2)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP1A3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • inner ear
  • lip
  • mouth
  • neck
  • pharynx
  • salivary gland
Thorax:
  • esophagus
Abdomen:
  • stomach
Limb:
  • foot
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns 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 30 31
  • 95.91 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP1A3 30 31
  • 93.04 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATP1A3 30 31
  • 92.98 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ATP1A3 31
  • 91 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Atp1a3 30 17 31
  • 90.83 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp1a3 30
  • 90.27 (n)
Chicken
(Gallus gallus)
Aves ATP1A3 30
  • 85.64 (n)
Lizard
(Anolis carolinensis)
Reptilia ATP1A3 31
  • 97 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp1a3 30
  • 79.77 (n)
African clawed frog
(Xenopus laevis)
Amphibia atp1a3-prov 30
Zebrafish
(Danio rerio)
Actinopterygii atp1a3a 30 31
  • 90 (a)
OneToMany
atp1a3b 30 31
  • 79.5 (n)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12137 30
Fruit Fly
(Drosophila melanogaster)
Insecta Atpalpha 30 31 32
  • 71.72 (n)
OneToMany
CG17923 32
  • 62 (a)
CG3701 32
  • 31 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002858 30
  • 70.74 (n)
Worm
(Caenorhabditis elegans)
Secernentea eat-6 30 31 32
  • 67.04 (n)
OneToMany
C02E7.1 32
  • 34 (a)
Y105E8A.12 32
  • 30 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENA1 31
  • 26 (a)
ManyToMany
ENA2 31
  • 26 (a)
ManyToMany
ENA5 31
  • 26 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 67 (a)
OneToMany
Species where no ortholog for ATP1A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ATP1A3: view image

Paralogs for ATP1A3 Gene

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

  • AT1A3_HUMAN
  • M0QXF2_HUMAN
  • M0R116_HUMAN
  • Q58I21_HUMAN
genes like me logo Genes that share paralogs with ATP1A3: view

Variants for ATP1A3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP1A3 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
639096 Uncertain Significance: Dystonia 12 41,968,778(-) C/A INTRON_VARIANT
640165 Uncertain Significance: Dystonia 12 41,981,721(-) C/T SPLICE_DONOR_VARIANT
643644 Uncertain Significance: Dystonia 12 41,966,965(-) C/T MISSENSE_VARIANT
643799 Uncertain Significance: Dystonia 12 41,970,503(-) T/C MISSENSE_VARIANT
644620 Uncertain Significance: Dystonia 12 41,975,801(-) G/GAGGGTGCAGGGTA INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ATP1A3 Gene

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

Variant ID Type Subtype PubMed ID
dgv3550n100 CNV gain 25217958
esv2678217 CNV deletion 23128226
esv2718591 CNV deletion 23290073
esv992854 OTHER inversion 20482838
nsv138051 CNV deletion 16902084
nsv520239 CNV loss 19592680
nsv522854 CNV gain 19592680
nsv953580 CNV deletion 24416366

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)

Additional Variant Information for ATP1A3 Gene

Human Gene Mutation Database (HGMD)
ATP1A3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP1A3

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

Disorders for ATP1A3 Gene

MalaCards: The human disease database

(45) MalaCards diseases for ATP1A3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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, ECO:0000269 PubMed:24631656, ECO:0000269 PubMed:26993267}. 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.

Additional Disease Information for ATP1A3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 LJ (Brain : a journal of neurology 2007) 2 3 23
  2. Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. (PMID: 15260953) de Carvalho Aguiar P … Ozelius LJ (Neuron 2004) 3 4 23
  3. A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. (PMID: 24468074) Demos MK … FORGE Canada Consortium (Orphanet journal of rare diseases 2014) 3 4
  4. Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. (PMID: 23409136) Ishii A … Hirose S (PloS one 2013) 3 4
  5. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. (PMID: 22850527) Rosewich H … Gärtner J (The Lancet. Neurology 2012) 3 4

Products for ATP1A3 Gene

  • Signalway ELISA kits for ATP1A3
  • Signalway Proteins for ATP1A3

Sources for ATP1A3 Gene