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ATP1A3 Gene

protein-coding   GIFtS: 73
GCID: GC19M042470

ATPase, Na+/K+ Transporting, Alpha 3 Polypeptide

(Previous name: dystonia 12)
(Previous symbol: DYT12)
  See ATP1A3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATPase, Na+/K+ Transporting, Alpha 3 Polypeptide1 2     AHC22 5
Sodium Pump Subunit Alpha-31 2 3     RDP2 5
DYT121 2 5     Dystonia 121
Sodium-Potassium ATPase Catalytic Subunit Alpha-31 2     Na+/K+ ATPase 32
Sodium/Potassium-Transporting ATPase Subunit Alpha-31 2     Sodium-Potassium-ATPase, Alpha 3 Polypeptide2
Na(+)/K(+) ATPase Alpha(III) Subunit2 3     Sodium/Potassium-Transporting ATPase Alpha-3 Chain2
Na(+)/K(+) ATPase Alpha-3 Subunit2 3     EC 3.6.38
EC 3.6.3.93 8     

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss. GO annotations related to this gene include sodium:potassium-exchanging ATPase activity. An important paralog of this gene is ATP1A2.

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 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


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   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 plasmidATP1A3 promoter sequence
   Search Chromatin IP Primers for ATP1A3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
42,501,649 bp from pter
Size:
30,916 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
Secondary accessions: B7Z2T0 B7Z401 F5H6J6 Q16732 Q16735 Q969K5
Alternative splicing: 3 isoforms:  P13637-1   P13637-2   P13637-3   

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

Explore proteomics data for ATP1A3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys152, Lys349, Lys367, Lys595, Lys602, Lys615, Lys619, Lys688, Lys833
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATP1A3 (P13637) (see all 97)
     AVETLGS  SSLTGES  YDEIRKL  LIFVYDE 


    See ATP1A3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000411503   ENSP00000302397   ENSP00000444688   ENSP00000437577   ENSP00000471581  
     ENSP00000469129  
    Reactome Protein details: P13637

    ATP1A3 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for ATP1A3
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    Novus Biologicals ATP1A3 Proteins
    Novus Biologicals ATP1A3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for ATP1A3 

     
    antibodies-online proteins for ATP1A3 (3 products) 

     
    Search antibodies-online for peptides for ATP1A3

    ATP1A3 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ATP1A3
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    antibodies-online antibodies for ATP1A3 (20 products) 

    ATP1A3 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for ATP1A3 
    antibodies-online kits for ATP1A3 (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PATP: ATPases / P-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: alpha3
    Na+/K+-ATPase

    Selected InterPro protein domains (see all 9):
     IPR023298 ATPase_P-typ_TM_dom
     IPR005775 ATPase_P-typ_Na/K_IIC
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR023214 HAD-like_dom
     IPR004014 ATPase_P-typ_cation-transptr_N

    Graphical View of Domain Structure for InterPro Entry P13637

    ProtoNet protein and cluster: P13637

    4 Blocks protein domains:
    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


    Find genes that share domains with ATP1A3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005391sodium:potassium-exchanging ATPase activity IMP15260953
    GO:0005515protein binding ----
    GO:0005524ATP binding NAS15260953
    GO:0015077monovalent inorganic cation transmembrane transporter activity ----
         
    Find genes that share ontologies with ATP1A3           About GenesLikeMe


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

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Atp1a3):
     behavior/neurological  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     mortality/aging  nervous system 

    Find genes that share phenotypes with ATP1A3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Atp1a3tm1Ling for ATP1A3

       genOway: Develop your customized and physiologically relevant rodent model for ATP1A3

    miRNA
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    miRTarBase miRNAs that target ATP1A3:
    hsa-mir-26b-5p (MIRT029518)

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    4 qRT-PCR Assays for microRNAs that regulate ATP1A3:
    hsa-miR-4286 hsa-miR-1276 hsa-miR-198 hsa-miR-181a-2*
    SwitchGear 3'UTR luciferase reporter plasmidATP1A3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ATP1A3

    Gene Editing
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP1A3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AT1A3_HUMAN, P13637: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    plasma membrane5
    nucleus2

    Gene Ontology (GO): Selected cellular component terms (see all 12):    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--

    Find genes that share ontologies with ATP1A3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ATP1A3 About   (see all 20)  
    See pathways by source

    SuperPathContained pathways About
    1Insulin secretion
    Insulin secretion0.36
    Thyroid hormone synthesis0.36
    2Salivary secretion
    Salivary secretion0.34
    Gastric acid secretion0.34
    3Ion channel transport
    Ion channel transport0.58
    4Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    5Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Aldosterone Signaling in Epithelial Cells0.47


    Find genes that share SuperPaths with ATP1A3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    1 BioSystems Pathway for ATP1A3
        SIDS Susceptibility Pathways

    1 Reactome Pathway for ATP1A3
        Ion transport by P-type ATPases


    Selected Kegg Pathways  (Kegg details for ATP1A3) (see all 15):
        Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    Insulin secretion
    Thyroid hormone synthesis
    Thyroid hormone signaling pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP1A3
    Interactions:

        Search GeneGlobe Interaction Network for ATP1A3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ATP1A3 (P136372, 3 ENSP000003023974) via UniProtKB, MINT, STRING, and/or I2D (see all 85)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2857137 MINT-2857118 I2D: score=3 STRING: ENSP00000244769
    AGO2Q9UKV82, ENSP000002205924MINT-6489217 STRING: ENSP00000220592
    MAPK3P273613, ENSP000002630254I2D: score=1 STRING: ENSP00000263025
    CTSLP077113I2D: score=3 
    GALK2Q014153I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006754ATP biosynthetic process IEA--
    GO:0006812cation transport ----
    GO:0006813potassium ion transport ----
    GO:0006814sodium ion transport ----
    GO:0007613memory IEA--

    Find genes that share ontologies with ATP1A3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for ATP1A3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Lithium carbonateMood stabilizer; inhibits Na+/K+ ATPase pump activity[554-13-2]
    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--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000441343(uc002osh.3) ENST00000302102(uc010xwg.2) ENST00000545399(uc002osg.3 uc010xwh.2)
    ENST00000543770(uc010xwf.2) ENST00000602133 ENST00000485672 ENST00000473086
    ENST00000468774 ENST00000465007
    miRNA
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    hsa-miR-4286 hsa-miR-1276 hsa-miR-198 hsa-miR-181a-2*
    SwitchGear 3'UTR luciferase reporter plasmidATP1A3 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat ATP1A3
      QuantiFast Probe-based Assays in human, mouse, rat ATP1A3

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 254):

    AW498654 BP361825 BM457812 CR602384 BQ637883 BP360305 AL557452 BQ638570 
    CB156520 AL521433 BQ440634 BQ639759 CR596494 AA351034 BE255738 BM929436 
    H40777 BM799732 AW372140 BM690271 CR609841 T28434 BC009282 BQ636156 

    GeneLoc Exon Structure

    Selected 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATP1A3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACCCTCTCA
    ATP1A3 Expression
    About this image


    ATP1A3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Granulosa Cells Primary Follicle
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     NULL (Uncategorized)
             Mesenchymal Progenitor Cells - Passage 2
    ATP1A3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP1A3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515427
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    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP1A3 gene from Selected species (see all 18)    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 90.83(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 85.64(n)
    97.29(a)
      396467  NM_205475.1  NP_990806.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP1A36
    ATPase, Na+/K+ transporting, alpha 3 polypeptide
    97(a)
    1 ↔ 1
    GL344515.1(24178-29852)
    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
    71.72(n)1
    76.34(a)1
      93B23
    489711  NM_169936.21  NP_732572.11 
    worm
    (Caenorhabditis elegans)
    Secernentea eat-61 , 3 Na(+)/K(+) ATPase alpha subunit3
    eat-61
    72(a)
    (best of 3)3
    67.04(n)1
    73.46(a)1
      V(13129245-13132586)3
    1797961  NM_073868.31  NP_506269.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ENA16
    ENA26
    (see all 3)
    P-type ATPase sodium pump, involved in Na+ and Li+...
    P-type ATPase sodium pump, involved in Na+ efflux ...
    (see all 3)
    26(a)
    26(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    IV(535192-538467) YDR040C
    IV(531307-534582) YDR039C
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP1A3 gene
    ATP1A22  ATP1A42  ATP12A2  ATP1A12  ATP4A2  
    7 SIMAP similar genes for ATP1A3 using alignment to 4 protein entries:     AT1A3_HUMAN (see all proteins):
    ATP1A2    ATP1A1    ATP1A4    DKFZp666G172    ATP4A    ATP12A
    ATP2C1

    Find genes that share paralogs with ATP1A3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATP1A3 (see all 731)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0689474
    Alternating hemiplegia of childhood 2 (AHC2)4--see VAR_0689472 E K mis40--------
    VAR_0707744
    Alternating hemiplegia of childhood 2 (AHC2)4--see VAR_0707742 C Y mis40--------
    VAR_0689524
    Alternating hemiplegia of childhood 2 (AHC2)4--see VAR_0689522 D Y mis40--------
    VAR_0267384
    Dystonia 12 (DYT12)4--see VAR_0267382 I S mis40--------
    VAR_0267354
    Dystonia 12 (DYT12)4--see VAR_0267352 I T mis40--------
    VAR_0689464
    Alternating hemiplegia of childhood 2 (AHC2)4--see VAR_0689462 S P mis40--------
    VAR_0707674
    Alternating hemiplegia of childhood 2 (AHC2)4--see VAR_0707672 V D mis40--------
    VAR_0689454
    Alternating hemiplegia of childhood 2 (AHC2)4--see VAR_0689452 I S mis40--------
    VAR_0689504
    Alternating hemiplegia of childhood 2 (AHC2)4--see VAR_0689502 G R mis40--------
    VAR_0689364
    Alternating hemiplegia of childhood 2 (AHC2)4--see VAR_0689362 S Y mis40--------

    HapMap Linkage Disequilibrium report for ATP1A3 (42470734 - 42501649 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for ATP1A3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718591CNV Deletion23290073
    esv2678217CNV Deletion23128226
    nsv520239CNV Loss19592680
    nsv911782CNV Loss21882294
    dgv3883n71CNV Loss21882294
    dgv3882n71CNV Loss21882294
    nsv138051CNV Loss16902084
    nsv522854CNV Gain19592680
    esv992854OTHER Inversion20482838

    Human Gene Mutation Database (HGMD): ATP1A3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP1A3
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP1A3

    (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.)
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    OMIM gene information: 182350   
    OMIM disorders: 128235  614820  
    UniProtKB/Swiss-Prot: AT1A3_HUMAN, P13637
  • 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. 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 12 diseases for ATP1A3:    
    About MalaCards
    alternating hemiplegia of childhood 2    cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss    atp1a3-related alternating hemiplegia of childhood    rapid-onset dystonia-parkinsonism
    dystonia 12    retinoschisis    alternating hemiplegia of childhood    hemiplegia
    x-linked juvenile retinoschisis    mutism    movement disease    dystonia

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

    Find genes that share disorders with ATP1A3           About GenesLikeMe

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

    Export disorders for ATP1A3 gene to outside databases

    (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)
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    PubMed articles for ATP1A3 gene, integrated from 10 sources (see all 66):
    (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. (Brain 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. (Neuron 2004)
    3. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. (PubMed id 22842232)1, 2 Heinzen E.L.... Goldstein D.B. (Nat. Genet. 2012)
    4. A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia- parkinsonism. (PubMed id 19351654)1, 2 Blanco-Arias P.... Sobrido M.J. (Hum. Mol. Genet. 2009)
    5. Association between sodium- and potassium-activated adenosine triphosphatase alpha isoforms and bipolar disorders. (PubMed id 19058785)1, 4 Goldstein I....Lichtstein D. (Biol. Psychiatry 2009)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. 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. (Genome Res. 2004)
    8. 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. (FEBS Lett. 1988)
    9. 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. (Dokl. Akad. Nauk SSSR 1987)
    10. 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. (FEBS Lett. 1987)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ATP1A3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ATP1A3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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"
    GeneCards and IP:
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