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ATP4A Gene

protein-coding   GIFtS: 57
GCID: GC19M037058

ATPase, H+/K+ Exchanging, Alpha Polypeptide

  See 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, H+/K+ Exchanging, Alpha Polypeptide1 2     ATPase, H+/K+ Transporting, Alpha Polypeptide2
Proton Pump1 2 3     Gastric H+/K+ ATPase Alpha Subunit2
H(+)-K(+)-ATPase Alpha Subunit1 2     Gastric H,K-ATPase Alpha Subunit2
Gastric H(+)/K(+) ATPase Subunit Alpha2 3     Gastric H,K-ATPase Catalytic Subunit2
EC 3.6.3.103 8     Gastric Hydrogen-Potassium ATPase2
ATP6A2 5     Potassium-Transporting ATPase Alpha Chain 12
Gastric H1     EC 3.6.38
K-ATPase Alpha Subunit1     

External Ids:    HGNC: 8191   Entrez Gene: 4952   Ensembl: ENSG000001056757   OMIM: 1372165   UniProtKB: P206483   

Export aliases for ATP4A gene to outside databases

Previous GC identifers: GC19M036680 GC19M036489 GC19M040717 GC19M040732 GC19M036041 GC19M032546 GC19M036264 GC19M036540


(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 ATP4A Gene:
The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+,
K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but
heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with
the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion.
This gene encodes a catalytic alpha subunit of the gastric H+, K+-ATPase. (provided by RefSeq, Jul 2008)

GeneCards Summary for ATP4A Gene:
ATP4A (ATPase, H+/K+ exchanging, alpha polypeptide) is a protein-coding gene. Diseases associated with ATP4A include dyskinesia of esophagus, and gastric outlet obstruction. GO annotations related to this gene include protein heterodimerization activity and hydrogen:potassium-exchanging ATPase activity. An important paralog of this gene is ATP1A2.

UniProtKB/Swiss-Prot: ATP4A_HUMAN, P20648
Function: Catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma
membrane. Responsible for acid production in the stomach

summary for ATP4A Gene:
H+, K+-ATPases are gastric proton pumps that function to maintain an acidic environment within the stomach.
They are found in parietal cells of the gastric mucosa and transport H+ and K+ ions against their
concentration gradients using energy derived from the hydrolysis of ATP. H+, K+-ATPases are P-type ATPases
that exist as heterodimers, consisting of an alpha- and a beta-subunit. The alpha-subunit, coded by the
ATP4A gene on human chromosome 19q13.1, contains the catalytic site and mediates ion transport. The
beta-subunit, coded by the ATP4B gene on human chromosome 13q34, acts to stabilize the alpha-subunit and is
essential for enzyme function. Overactivity of H+, K+-ATPases causes inflammation of the gastric epithelium
and these transporters are the pharmacological target in the treatment of peptic ulcer disease, dyspepsia
and gastro-esophageal reflux disease (GORD).




(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:
NC_000019.10  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP4A gene promoter:
         Max1   MAZR   AML1a   Pax-6   CUTL1   HEN1   AREB6   PPAR-alpha   ZID   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP4A promoter sequence
   Search Chromatin IP Primers for ATP4A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP4A


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

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.12   HGNC cytogenetic band: 19q13.1

ATP4A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP4A gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M037058:  view genomic region     (about GC identifiers)

Start:
36,040,945 bp from pter      End:
36,054,560 bp from pter
Size:
13,616 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ATP4A_HUMAN, P20648 (See protein sequence)
Recommended Name: Potassium-transporting ATPase alpha chain 1  
Size: 1035 amino acids; 114119 Da
Subunit: Composed of two subunits: alpha (catalytic) and beta
Secondary accessions: O00738

Explore the universe of human proteins at neXtProt for ATP4A: NX_P20648

Explore proteomics data for ATP4A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATP4A (P20648) (see all 50)
     EAFQTAY  AVETLGS  SVELGPG  DDNFASI 


    See ATP4A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000695.2  
    ENSEMBL proteins: 
     ENSP00000262623   ENSP00000472323  
    Reactome Protein details: P20648

    ATP4A Human Recombinant Protein Products:

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    (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: ATP4A
    H+/K+-ATPase

    Selected InterPro protein domains (see all 10):
     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 P20648

    ProtoNet protein and cluster: P20648

    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: ATP4A_HUMAN, P20648
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily


    ATP4A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATP4A_HUMAN, P20648
    Function: Catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma
    membrane. Responsible for acid production in the stomach
    Catalytic activity: ATP + H(2)O + H(+)(In) + K(+)(Out) = ADP + phosphate + H(+)(Out) + K(+)(In)

         Genatlas biochemistry entry for ATP4A:
    ATPase,H+,K+ transporting,alpha 4 polypeptide,expressed in parietal gastric cells

         Enzyme Numbers (IUBMB): EC 3.6.3.101 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:0000287magnesium ion binding IEA--
    GO:0005524ATP binding IEA--
    GO:0008900hydrogen:potassium-exchanging ATPase activity IEA--
    GO:0015077monovalent inorganic cation transmembrane transporter activity ----
         
    ATP4A for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Atp4a):
     digestive/alimentary  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 

    ATP4A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Atp4atm1Ges for ATP4A

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    SwitchGear 3'UTR luciferase reporter plasmidATP4A 3' UTR sequence
    Inhib. RNA
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    (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
    ATP4A_HUMAN, P20648: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    vacuole3
    cytosol2
    endoplasmic reticulum2
    endosome2
    extracellular2
    golgi apparatus2
    lysosome2
    mitochondrion2
    chloroplast1
    cytoskeleton1
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS2160952
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----

    ATP4A for ontologies           About GeneDecksing


    (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 ATP4A About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Insulin receptor recycling
    Collecting duct acid secretion0.66
    2Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Oxidative phosphorylation0.64
    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
    5Salivary secretion
    Gastric acid secretion0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ATP4A
        Ion transport by P-type ATPases

    1 PharmGKB Pathway for ATP4A
        Proton Pump Inhibitor Pathway, Pharmacodynamics

    3 Kegg Pathways  (Kegg details for ATP4A):
        Oxidative phosphorylation
    Collecting duct acid secretion
    Gastric acid secretion


    ATP4A for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ATP4A: 
              Mitochondrial Energy Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ATP4A

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

    Selected Interacting proteins for ATP4A (ENSP000002626234) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP12AENSP000003713724STRING: ENSP00000371372
    PPA1ENSP000003623294STRING: ENSP00000362329
    LHPPENSP000003578354STRING: ENSP00000357835
    PPA2ENSP000003438854STRING: ENSP00000343885
    ATP4BENSP000003342164STRING: ENSP00000334216
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006754ATP biosynthetic process IEA--
    GO:0006810transport TAS2160952
    GO:0006812cation transport ----
    GO:0010155regulation of proton transport IEA--
    GO:0015672monovalent inorganic cation transport ----

    ATP4A for ontologies           About GeneDecksing



    (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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    Compounds for ATP4A available from Tocris Bioscience    About this table
    CompoundAction CAS #
    SCH 28080 H+,K+-ATPase inhibitor [76081-98-6]

    9 HMDB Compounds for ATP4A    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--
    LansoprazoleAgopton (see all 26)103577-45-3--
    Omeprazole( -)-Omeprazole (see all 106)73590-58-6--
    PantoprazolePantoloc (see all 6)102625-70-7--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    PotassiumK+ (see all 16)7440-09-7--
    RabeprazoleAciphex (see all 6)117976-89-3--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    5 DrugBank Compounds for ATP4A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Esomeprazole(-)-Omeprazole (see all 3)161796-78-7targetinhibitor19606942 11752352 19210109 18627213
    OmeprazoleOMEP (see all 2)73590-58-6targetinhibitor19120905 18925391 11752352 18679668
    Lansoprazole-- 103577-45-3targetinhibitor9279507 11752352 11693467
    PantoprazolePantoprazol [INN-Spanish] (see all 5)102625-70-7targetinhibitor12487624 11752352 19938880
    RabeprazoleIrsogladine Maleate (see all 3)117976-89-3targetinhibitor10551440 11752352 11772142



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ATP4A gene: 
    NM_000704.2  

    Unigene Cluster for ATP4A:

    ATPase, H+/K+ exchanging, alpha polypeptide
    Hs.36992  [show with all ESTs]
    Unigene Representative Sequence: AL832971
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262623(uc010eee.1 uc002oal.1) ENST00000592131 ENST00000592767
    ENST00000590916
    miRNA
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    hsa-miR-558 hsa-miR-29b-1* hsa-miR-3160-3p hsa-miR-1289
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    Additional mRNA sequence: 

    AK058032.1 AK223259.1 AK308474.1 AL832971.1 

    3 DOTS entries:

    DT.208927  DT.121419327  DT.121419308 

    12 AceView cDNA sequences:

    BX090748 AL832971 H23831 NM_000704 T28101 BP343590 BP342272 AK058032 
    BM924380 H23865 H30357 BI838591 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ATP4A    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
    SP1:              -                                                                                         -                                                   
    SP2:                                                                                      -                 -     -     -                                       
    SP3:                                                                                      -                 -                                                   
    SP4:                                                                                                                                                            
    SP5:                                                                                      -                                                                     

    ExUns: 22
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for ATP4A

    (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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    ATP4A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGACTGTGC
    ATP4A Expression
    About this image

    ATP4A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP4A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.36992

    UniProtKB/Swiss-Prot: ATP4A_HUMAN, P20648
    Tissue specificity: Found in gastric mucosa

        Pathway & Disease-focused RT2 Profiler PCR Array including ATP4A: 
              Mitochondrial Energy Metabolism in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP4A

    (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 animals and fungi.

    Orthologs for ATP4A gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp4a1 , 5 ATPase, H+/K+ exchanging, gastric, alpha polypeptide1, 5 88.55(n)1
    97.56(a)1
      7 (19.20 cM)5
    119441  NM_018731.21  NP_061201.21 
     307122095 
    lizard
    (Anolis carolinensis)
    Reptilia ATP4A6
    ATPase, H+/K+ exchanging, alpha polypeptide
    87(a)
    1 ↔ 1
    GL343281.1(109976-137239)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.9712 Xenopus laevis gastric H(+)-K(+)-ATPase alpha-subunit more 79.16(n)    U17249.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp1a1a.46
    ATPase, Na+/K+ transporting, alpha 1a polypeptide,...
    62(a)
    many ↔ many
    1(1446561-1462945) ENSDARG00000001870
    fruit fly
    (Drosophila melanogaster)
    Insecta CG179233 sodium/potassium-exchanging ATPase 54(a)
    (best of 2)
      101F1   --
    worm
    (Caenorhabditis elegans)
    Secernentea eat-63 Na(+)/K(+) ATPase alpha subunit 59(a)
    (best of 3)
      V(13129245-13132586)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ENA56
    ENA16
    (see all 3)
    Protein with similarity to P-type ATPase sodium pu...
    P-type ATPase sodium pump, involved in Na+ and Li+...
    (see all 3)
    25(a)
    25(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    IV(527422-530697) YDR038C
    IV(535192-538467) YDR040C


    ENSEMBL Gene Tree for ATP4A (if available)
    TreeFam Gene Tree for ATP4A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP4A gene
    ATP1A22  ATP1A42  ATP12A2  ATP1A12  ATP1A32  
    6 SIMAP similar genes for ATP4A using alignment to 2 protein entries:     ATP4A_HUMAN (see all proteins):
    DKFZp666G172    ATP1A1    ATP1A3    ATP1A2    ATP12A    ATP1A4

    ATP4A for paralogs           About GeneDecksing



    (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 ATP4A (see all 532)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1811105811,2
    --36040603(+) AGAGAA/GGTGAA 1 -- ds50010--------
    rs1414353651,2
    --36040691(+) GGGGAC/TCTCCA 1 -- ds50010--------
    rs1463274731,2
    C--36040724(+) TTGCCA/GGGACA 1 -- ds50010--------
    rs1395933111,2
    --36040890(+) CGCCAC/TGGCCC 1 -- ds50010--------
    rs1151762521,2
    C,F--36040946(+) ATTTCC/TCCAAG 1 -- ds50011Minor allele frequency- T:0.01WA 118
    rs1861890941,2
    --36040948(+) TTCCCC/TAAGGC 1 -- ds50010--------
    rs27337441,2
    C,F,H--36041030(+) CCCCAT/GGTACA 1 -- ds500114Minor allele frequency- G:0.09NS EA NA 2004
    rs1889424031,2
    --36041070(+) GAGACG/TCTGAG 1 -- ds50010--------
    rs1428706851,2
    C--36041147(+) CAAGCA/GTGTCT 1 -- ut310--------
    rs1459887451,2
    C--36041379(+) GGTGCC/TGTGGG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ATP4A (36040945 - 36054560 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ATP4A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv911628CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP4A
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP4A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 137216    OMIM disorders: --

    Selected diseases for ATP4A (see all 28):    About MalaCards
    dyskinesia of esophagus    gastric outlet obstruction    gastric antral vascular ectasia    hiatus hernia
    bile reflux    dyspepsia    duodenogastric reflux    peptic ulcer
    interstitial nephritis    achalasia    esophagitis    megaloblastic anemia
    constipation    gastroesophageal reflux disease    renal tubular acidosis    gastrinoma
    irritable bowel syndrome    pharyngitis    stomach cancer    osteopetrosis

    Selected diseases from the University of Copenhagen DISEASES database for ATP4A (see all 22):
    Gastroesophageal reflux disease     Peptic ulcer     Esophagitis     Dyspepsia
    Hiatus hernia     Gastritis     Laryngitis     Diarrhea
    Achalasia     Bile reflux     Gastrinoma     Dyskinesia of esophagus
    Pneumonia     Carcinoma     Duodenitis     Asthma
    Esophageal cancer     Gastric outlet obstruction     Stomach cancer     Irritable bowel syndrome

    ATP4A for disorders           About GeneDecksing


    Export disorders for ATP4A 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 ATP4A gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with ATP4A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of the human gastric H,K-ATPase gene and comparison of the 5'-flanking sequences of the human and rat genes. (PubMed id 2176086)1, 2, 9 Newman P.R.... Shull G.E. (DNA Cell Biol. 1990)
    2. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (Nature 2004)
    3. Mapping of the gene encoding the alpha-subunit of the human H+,K(+)-ATPase to chromosome 19q13.1 by fluorescent in situ hybridization. (PubMed id 1330887)1, 3 Song I....Trent J.M. (Genomics 1992)
    4. Human gastric (H+ + K+)-ATPase gene. Similarity to (Na+ + K+)-ATPase genes in exon/intron organization but difference in control region. (PubMed id 2160952)1, 2 Maeda M.... Futai M. (J. Biol. Chem. 1990)
    5. 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)
    6. Intragenic DNA methylation concomitant with repression of ATP4B and ATP4A gene expression in gastric cancer is a potential serum biomarker. (PubMed id 23317218)1 Raja U.M....Rajkumar T. (Asian Pac. J. Cancer Prev. 2012)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    10. The pharmacology of esomeprazole and its role in gastric acid related diseases. (PubMed id 19606942)7 Saccar C.L. (amp 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 495 HGNC: 819 AceView: ATP4A Ensembl:ENSG00000105675 euGenes: HUgn495
    ECgene: ATP4A Kegg: 495 H-InvDB: ATP4A

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for ATP4A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATP4A gene:
    Search GeneIP for patents involving ATP4A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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