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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATP1A3 Gene

protein-coding   GIFtS: 70
GCID: GC19M042470

ATPase, Na+/K+ transporting, alpha 3 polypeptide

(Previous name: dystonia 12 )
(Previous symbol: DYT12)
 Explore 22 diseases affiliated with
ATP1A3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ATP1A3    

Aliases
for ATP1A3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
ATPase, Na+/K+ Transporting, Alpha 3 Polypeptide1 2     AHC22
DYT121 2 5     Na+/K+ ATPase 32
Sodium Pump Subunit Alpha-32 3     Sodium-Potassium ATPase Catalytic Subunit Alpha-32
Na(+)/K(+) ATPase Alpha(III) Subunit2 3     Sodium-Potassium-ATPase, Alpha 3 Polypeptide2
Na(+)/K(+) ATPase Alpha-3 Subunit2 3     Sodium/Potassium-Transporting ATPase Alpha-3 Chain2
EC 3.6.3.93 8     Sodium/Potassium-Transporting ATPase Subunit Alpha-32
RDP2 5     EC 3.6.38
Dystonia 121     

External Ids:    HGNC: 8011   Entrez Gene: 4782   Ensembl: ENSG000001054097   OMIM: 1823505   UniProtKB: P136373   

Export aliases for ATP1A3 gene to outside databases

Previous GC identifers: GC19U990006 GC19M042862 GC19M047146 GC19M047162 GC19M038902


Summaries
for ATP1A3 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ATP1A3:
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)

UniProtKB/Swiss-Prot: AT1A3_HUMAN, P13637
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

summary for ATP1A3:
Na+,K+-ATPase is an ion pump responsible for maintaining sodium and potassium electrochemical gradients
across the plasma membrane.

Gene Wiki entry for ATP1A3


Genomic Views
for ATP1A3 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP1A3 gene promoter:
         AhR   Olf-1   AP-4   HNF-4alpha2   Nkx2-5   Ik-3   LCR-F1   HNF-4alpha1   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ATP1A3 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP1A3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP1A3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.31   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

ATP1A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP1A3 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M042470:  view genomic region     (about GC identifiers)

Start:
 42,470,734 bp from pter      End:
 42,498,384 bp from pter
Size:
 27,651 bases      Orientation:
 minus strand

Proteins
for ATP1A3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: AT1A3_HUMAN, P13637 (See protein sequence)
Recommended Name: Sodium/potassium-transporting ATPase subunit alpha-3  
Size: 1013 amino acids; 111749 Da
Subunit: Composed of three subunits: alpha (catalytic), beta and gamma
Subcellular location: Cell membrane; Multi-pass membrane protein
Secondary accessions: Q16732 Q16735 Q969K5

Explore the universe of human proteins at neXtProt for ATP1A3: NX_P13637

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P13637

    • 4/97 DME Specific Peptides for ATP1A3 (P13637) (see all 97)
     AVETLGS  SSLTGES  YDEIRKL  LIFVYDE 

    ATP1A3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001243142.1  NP_001243143.1  NP_689509.1  

    ENSEMBL proteins: 
     ENSP00000302397   ENSP00000411503   ENSP00000403667   ENSP00000444688   ENSP00000437577  
    Reactome Protein details: P13637
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005783endoplasmic reticulum IDA15260953
    GO:0005794Golgi apparatus IDA15260953
    GO:0005886plasma membrane TAS--


    ATP1A3 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for ATP1A3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ATP1A3 for domains           About GeneDecksing

    5/10 InterPro domains/families (see all 10):
     IPR023298 ATPase_P-typ_TM_dom
     IPR023306 ATPase_cation_domN
     IPR005775 ATPase_P-typ_Na/K
     IPR023299 ATPase_P-typ_cyto_domN
     IPR008250 ATPase_P-typ_transduc_dom_A

    Graphical View of Domain Structure for InterPro Entry P13637

    ProtoNet protein and cluster: P13637

    4 Blocks protein families:
    IPB001757 ATPase
    IPB006068 Cation transporting ATPase
    IPB006069 Sodium/potassium-transporting ATPase signature
    IPB008250 E1-E2 ATPase-associated region


    UniProtKB/Swiss-Prot: AT1A3_HUMAN, P13637
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily


    Function
    for ATP1A3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: AT1A3_HUMAN, P13637
    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
    Catalytic activity: ATP + H(2)O + Na(+)(In) + K(+)(Out) = ADP + phosphate + Na(+)(Out) + K(+)(In)

         Genatlas biochemistry entry for ATP1A3:
    ATPase,Na+K+,alpha 3 polypeptide

    Enzyme Numbers (IUBMB): EC 3.6.3.91 2 EC 3.6.32

    miRNA
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    hsa-miR-4286 hsa-miR-1276 hsa-miR-198 hsa-miR-181a-2*
    SwitchGear 3'UTR luciferase reporter plasmid: ATP1A3 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005391sodium:potassium-exchanging ATPase activity IMP15260953
    GO:0005515protein binding ----
    GO:0005524ATP binding NAS15260953
    GO:0015077monovalent inorganic cation transmembrane transporter activity ----
    GO:0015662ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism ----


    ATP1A3 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ATP1A3:
     Decreased POU5F1-GFP protein e 

    Animal Models:
         Mouse knock-out Atp1a3tm1Ling for ATP1A3
         7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Atp1a3):
     behavior/neurological  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     mortality/aging  nervous system 

    ATP1A3 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ATP1A3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/16 super-pathways (see all 16) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Ion channel transport
    		Ion channel transport1.00
    		Ion transport by P-type ATPases0.32
    2Gastric acid secretion
    		Gastric acid secretion1.00
    		Salivary secretion0.35
    3Sodium-coupled transporters and pumps
    		Sodium-coupled transporters and pumps1.00
    4Hepatic ABC Transporters
    		Hepatic ABC Transporters1.00
    5SIDS Susceptibility Pathways
    		SIDS Susceptibility Pathways1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for ATP1A3
        Sodium-coupled transporters and pumps

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ATP1A3
        Hepatic ABC Transporters
    Aldosterone Signaling in Epithelial Cells

    1 BioSystems Pathway for ATP1A3 
        SIDS Susceptibility Pathways

    3        Reactome Pathways for ATP1A3
        Transmembrane transport of small molecules
    Ion channel transport
    Ion transport by P-type ATPases


    5/11         Kegg Pathways  (Kegg details for ATP1A3) (see all 11):
        Cardiac muscle contraction
    Aldosterone-regulated sodium reabsorption
    Endocrine and other factor-regulated calcium reabsorption
    Proximal tubule bicarbonate reclamation
    Salivary secretion


    ATP1A3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP1A3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/69 Interacting proteins for ATP1A3 (P136372, 3 ENSP000003023974) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2857137 MINT-2857118 I2D: score=3 STRING: ENSP00000244769
    AGO2Q9UKV82, ENSP000002205924MINT-6489217 STRING: ENSP00000220592
    CTSL1P077113I2D: score=3 
    GALK2Q014153I2D: score=3 
    NF2P352403I2D: score=3 
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006754ATP biosynthetic process IEA--
    GO:0006813potassium ion transport ----
    GO:0006814sodium ion transport ----
    GO:0007613memory IEA--
    GO:0008344adult locomotory behavior IEA--


    ATP1A3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ATP1A3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for ATP1A3:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ATP1A3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Ouabain Na+,K+-ATPase inhibitor [630-60-4]
    Digoxin Na+,K+-ATPase inhibitor [20830-75-5]

    7 HMDB Compounds for ATP1A3    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    PotassiumK+ (see all 16)7440-09-7--
    SodiumSodium (see all 2)7440-23-5--
    WaterDihydrogen oxide (see all 2)7732-18-5--
    Search CenterWatch for drugs/clinical trials and news about ATP1A3 / AT1A3 

    Transcripts
    for ATP1A3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ATP1A3 gene (3 alternative transcripts): 
    NM_001256213.1  NM_001256214.1  NM_152296.4  

    Unigene Cluster for ATP1A3:

    ATPase, Na+/K+ transporting, alpha 3 polypeptide
    Hs.515427  [show with all ESTs]
    Unigene Representative Sequence: NM_001256214
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000302102(uc010xwg.2) ENST00000441343(uc002osh.3) ENST00000473840
    ENST00000485672 ENST00000473086 ENST00000448429 ENST00000483078 ENST00000468774
    ENST00000465007 ENST00000545399(uc002osg.3 uc010xwh.2) ENST00000543770(uc010xwf.2)


    miRNA
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK054736.1 AK094628.1 AK122693.1 AK223569.1 AK295078.1 AK296557.1 AK307921.1 AK316069.1 
    AY946015.1 BC009282.2 BC009394.2 BC015566.2 

    10 DOTS entries:

    DT.413668  DT.91901325  DT.100031181  DT.91747518  DT.91747517  DT.100785030  DT.121500204  DT.100785034 
    DT.75115823  DT.91822665 

    24/254 AceView cDNA sequences (see all 254):

    AL832884 BQ637192 AA351034 BQ638570 CB156520 BQ637883 BP361825 NM_152296 
    BM698056 BM690271 BC015566 AL521433 BM799732 BQ221670 CR602384 T28434 
    BQ639723 H40777 BQ639759 BQ638165 H40778 BM457812 BQ440634 BC009282 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ATP1A3 (see all 7)    About this scheme

    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:        -     -     -                                                                                                                                       

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


    ECgene alternative splicing isoforms for ATP1A3

    Expression
    for ATP1A3 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATP1A3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACCCTCTCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ATP1A3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryAntral FollicleCumulus CellsOvary
    OvaryPrimary FollicleGranulosa CellsOvary
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Matrigel embedded cells (Derivation of cardio...)

    See ATP1A3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP1A3

    SOURCE GeneReport for Unigene cluster: Hs.515427
        SABiosciences Custom PCR Arrays for ATP1A3
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    Orthologs
    for ATP1A3 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP1A3 gene from 7/25 species (see all 25)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Atp1a31 , 5 ATPase, Na+/K+ transporting, alpha 3 polypeptide1, 5 90.85(n)1
    99.6(a)1    		   7 (13.73 cM)5
    2329751  NM_144921.11  NP_659170.11 
     249781675 
    chicken
    (Gallus gallus)    		 Aves ATP1A31 ATPase, Na+/K+ transporting, alpha 3 polypeptide 85.61(n)
    97.13(a)    		   396467  NM_205475.1  NP_990806.1 
    African clawed frog
    (Xenopus laevis)    		 Amphibia atp1a3-prov2 ATPase, Na+/K+ transporting, alpha 3 polypeptide 80.77(n)    BC043743.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii atp1a3a2 ATPase, Na+/K+ transporting, alpha 3a polypeptide 81.33(n)   64610  BC064703.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Atpalpha1 , 3 cation transport sodium/potassium-exchanging
    ATPase3
    Na pump alpha subunit1    		 76(a)
    (best of 3)3
    71.88(n)1
    76.93(a)1    		   93B23
    489711  NM_169936.11  NP_732572.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea eat-61 , 3 Na(+)/K(+) ATPase alpha subunit3
    Protein EAT-61    		 72(a)
    (best of 3)3
    66.93(n)1
    73.34(a)1    		   V(13129245-13132586)3
    1797961  NM_073868.21  NP_506269.11 
    rice
    (Oryza sativa)    		 Liliopsida AK068950.12   -- 74.45(n)    AK068950.1 


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

    Paralogs
    for ATP1A3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP1A3 gene
    ATP2C12  ATP2A32  ATP1A22  ATP2C22  ATP1A42  ATP2A12  ATP4A2  ATP2A22  
    ATP12A2  ATP1A12  
    9 SIMAP similar genes for ATP1A3 using alignment to 6 protein entries:     AT1A3_HUMAN (see all proteins):
    ATP1A1    ATP1A2    ATP1A4    DKFZp666G172    ATP4A    ATP12A
    ATP2A2    ATP2C1    ATP2C2

    ATP1A3 for paralogs           About GeneDecksing



    Genomic Variants
    for ATP1A3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/486 NCBI SNPs in ATP1A3 are shown (see all 486)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs803565371,2
    		Cpathogenic42474557(-) GCATCG/TATCTG 6 D Y mis10--------
    rs803565361,2
    		Cpathogenic42474620(-) CGCCCC/TTCCTG 6 L F mis10--------
    rs803565351,2
    		Cpathogenic42474685(-) CCTGAG/TCTTCG 6 S I mis10--------
    rs803565341,2
    		Cpathogenic42482193(-) CATCAC/TGGCCA 6 T M mis10--------
    rs803565331,2
    		Cpathogenic42489234(-) CCATCA/GAGATT 6 K E mis10--------
    rs803565321,2
    		Cpathogenic42489242(-) GCCCAC/TCGCCA 6 T I mis10--------
    rs1408719261,2
    		--42470268(+) ATAGCA/GTAGTG 3 -- ds50010--------
    rs782189011,2
    		--42470367(+) AATGCA/GCACTT 3 -- ds50011Minor allele frequency- G:0.01WA 118
    rs118782871,2
    		C,F,A,H,--42470374(+) ACTTAA/GAAGTG 3 -- ds500124Minor allele frequency- G:0.27NS EA NA WA CSA 2352
    rs286201521,2
    		C,--42470412(+) AATCAC/TTGTCA 3 -- ds50014Minor allele frequency- T:0.20NA WA 124

    HapMap Linkage Disequilibrium report for ATP1A3 (42470734 - 42498384 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ATP1A3
         1 Indel: 12027
    Human Gene Mutation Database (HGMD): ATP1A3

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    Disorders / Diseases
    for ATP1A3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ATP1A3 for disorders           About GeneDecksing

    OMIM gene information: 182350   
    OMIM disorders: 128235  
    UniProtKB/Swiss-Prot: AT1A3_HUMAN, P13637
  • Defects in ATP1A3 are the cause of dystonia type 12 (DYT12) [MIM:128235]; also known as rapid-onset dystonia
    • parkinsonism (RDP). DYT12 is 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
  • Defects in ATP1A3 are the cause of 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

    20/22 diseases for ATP1A3 (see all 22):    About MalaCards
    dystonia 12    rapid-onset dystonia-parkinsonism    x-linked juvenile retinoschisis    dystonia musculorum deformans
    retinoschisis    amyotrophic lateral sclerosis    familial dystonia    lateral sclerosis
    myotonic dystrophy    intrahepatic cholangiocarcinoma    bipolar disorder    neurologic diseases
    cholangiocarcinoma    parkinson's disease    aldosteronism    medulloblastoma
    pharyngitis    ataxia    pancreatitis    malaria

    4 diseases from the University of Copenhagen DISEASES database for ATP1A3:
    Familial dystonia     Hemiplegia     Movement disease     Mutism

    2 Novoseek disease relationships for ATP1A3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    parkinsonism 71.6 1 17282997 (1)
    movement disorders 66.5 1 15897512 (1)

    GeneTests: ATP1A3
    Rapid-Onset Dystonia-Parkinsonism

    Genetic Association Database (GAD): ATP1A3
    Human Genome Epidemiology (HuGE) Navigator: ATP1A3 (2 documents)

    Export disorders for ATP1A3 gene to outside databases

    Publications
    for ATP1A3 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ATP1A3 gene, integrated from 9 sources (see all 54):
    (articles sorted by number of sources associating them with ATP1A3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. (PubMed id 17282997)1, 3, 9 Brashear A....Ozelius L.J. (2007)
    2. Mutations in the Na(+)/K(+)-ATPase alpha-3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. (PubMed id 15260953)1, 2, 9 de Carvalho Aguiar P.... Ozelius L.J. (2004)
    3. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. (PubMed id 22842232)1, 2 Heinzen E.L.... Goldstein D.B. (2012)
    4. A C-terminal mutation of ATP1A3 underscores the cruci al role of sodium affinity in the pathophysiology of rapid-onset dystonia-parki nsonism. (PubMed id 19351654)1, 2 Blanco-Arias P....Sobrido M.J. (2009)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Family of human Na+, K+-ATPase genes. Structure of the gene for the catalytic subunit (alpha III-form) and its relationship with structural features of the protein. (PubMed id 2838329)1, 2 Ovchinnikov Y.A.... Sverdlov E.D. (1988)
    7. Family of human Na(+),K(+)-ATPase genes. Structure of the gene of isoform alpha-III. (PubMed id 2834163)1, 2 Sverdlov E.D.... Ovchinnikov Y.A. (1987)
    8. The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit. (PubMed id 3036582)1, 2 Sverdlov E.D.... Ovchinnikov Y.A. (1987)
    9. The family of human Na+,K+-ATPase genes. A partial nucleotide sequence related to the alpha-subunit. (PubMed id 3030810)1, 2 Ovchinnikov Y.A.... Sverdlov E.D. (1987)
    10. ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism. (PubMed id 17595045)1, 9 Lee J.Y....Jeon B.S. (2007)

    External Searches for ATP1A3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ATP1A3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 478 HGNC: 801 AceView: ATP1A3 Ensembl:ENSG00000105409 euGenes: HUgn478
    ECgene: ATP1A3 Kegg: 478 H-InvDB: ATP1A3

    Other Databases showing ATP1A3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ATP1A3 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATP1A3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP1A3

    Intellectual Property
    for ATP1A3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ATP1A3 gene:
    Search GeneIP for patents involving ATP1A3

    Licensable Technologies for ATP1A3 gene:
    Weizmann Institute:"Na, K-ATPase Isoforms and Selective Inhibitors Thereof"
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