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ATP10A Gene

protein-coding   GIFtS: 59
GCID: GC15M025923

ATPase, Class V, Type 10A

(Previous names: ATPase, Class V, type 10C, ATPase, Class V, type 10A)
(Previous symbol: ATP10C)
  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, Class V, Type 10A1 2     ATPase Type IV, Phospholipid Transporting (P-Type)2
ATP10C1 2 3 5     Phospholipid-Transporting ATPase VA2
ATPVC2 3 5     Probable Phospholipid-Transporting ATPase VA2
ATPase, Class V, Type 10C1 2     KIAA05663
Aminophospholipid Translocase VA2 3     ATPase Class V Type 10A3
ATPVA2 3     EC 3.6.38
EC 3.6.3.13 8     

External Ids:    HGNC: 135421   Entrez Gene: 571942   Ensembl: ENSG000002061907   OMIM: 6058555   UniProtKB: O603123   

Export aliases for ATP10A gene to outside databases

Previous GC identifers: GC15U990117 GC15M018670 GC15M023340 GC15M023469 GC15M023473 GC15M004050


(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 ATP10A Gene:
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of
aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and
phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within
the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'.
(provided by RefSeq, Jul 2008)

GeneCards Summary for ATP10A Gene:
ATP10A (ATPase, class V, type 10A) is a protein-coding gene. Diseases associated with ATP10A include angelman syndrome, and autistic disorder. GO annotations related to this gene include phospholipid-translocating ATPase activity and magnesium ion binding. An important paralog of this gene is ATP10B.

Gene Wiki entry for ATP10A 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:
NC_000015.10  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP10A gene promoter:
         ER-alpha   NF-1   NF-1/L   Pax-5   Lmo2   NF-kappaB   GATA-1   PPAR-alpha   SEF-1 (1)   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ATP10A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP10A


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

Entrez Gene cytogenetic band: 15q11.2   Ensembl cytogenetic band:  15q12   HGNC cytogenetic band: 15q12

ATP10A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP10A gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M025923:  view genomic region     (about GC identifiers)

Start:
25,922,420 bp from pter      End:
26,110,317 bp from pter
Size:
187,898 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: AT10A_HUMAN, O60312 (See protein sequence)
Recommended Name: Probable phospholipid-transporting ATPase VA  
Size: 1499 amino acids; 167688 Da
Secondary accessions: Q969I4

Explore the universe of human proteins at neXtProt for ATP10A: NX_O60312

Explore proteomics data for ATP10A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATP10A (O60312) (see all 18)
     LAIGDGA  NDVSMIQ  TLAIGDG  EGMQAVM 


    See ATP10A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_077816.1  
    ENSEMBL proteins: 
     ENSP00000349325   ENSP00000450480   ENSP00000451615   ENSP00000374617  
    Reactome Protein details: O60312

    ATP10A Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for ATP10A

    ATP10A Antibody Products:

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    ATP10A Assay Products:

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    Cloud-Clone Corp. CLIAs for ATP10A


    (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: ATP10A
    Phospholipid-transporting ATPase

    Selected InterPro protein domains (see all 6):
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR023214 HAD-like_dom
     IPR006539 ATPase_P-typ_Plipid-transp
     IPR001757 Cation_transp_P_typ_ATPase
     IPR018303 ATPase_P-typ_P_site

    Graphical View of Domain Structure for InterPro Entry O60312

    ProtoNet protein and cluster: O60312

    1 Blocks protein domain: IPB001757 ATPase

    UniProtKB/Swiss-Prot: AT10A_HUMAN, O60312
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily


    ATP10A 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: AT10A_HUMAN, O60312
    Catalytic activity: ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2)

         Enzyme Numbers (IUBMB): EC 3.6.3.11 2 EC 3.6.32

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0000287magnesium ion binding IEA--
    GO:0004012phospholipid-translocating ATPase activity NAS11353404
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
         
    ATP10A for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ATP10A:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP10A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ATP10A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATP10A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATP10A

    miRNA
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    miRTarBase miRNAs that target ATP10A:
    hsa-mir-335-5p (MIRT016850)

    Block miRNA regulation of human, mouse, rat ATP10A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATP10A (see all 18):
    hsa-miR-498 hsa-miR-16-2* hsa-miR-137 hsa-miR-1263 hsa-miR-1297 hsa-miR-3662 hsa-miR-26b hsa-miR-3182
    SwitchGear 3'UTR luciferase reporter plasmidATP10A 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat ATP10A

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: ATP10A (NM_024490)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP10A

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ATP10A 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP10A


    (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
    AT10A_HUMAN, O60312: Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane. Note=Exit from
    the endoplasmic reticulum requires the presence of TMEM30A, but not that of TMEM30B
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane5
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane NAS11353404

    ATP10A 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 ATP10A About    
    See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.58
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    3Ion transport by P-type ATPases
    Ion transport by P-type ATPases

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ATP10A
        Ion transport by P-type ATPases



    ATP10A for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP10A
    Interactions:

        Search GeneGlobe Interaction Network for ATP10A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for ATP10A (ENSP000003493254) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP8A1ENSP000003710844STRING: ENSP00000371084
    ATP8A2ENSP000003710704STRING: ENSP00000371070
    UBBENSP000003046974STRING: ENSP00000304697
    UBCENSP000003448184STRING: ENSP00000344818
    ATP5DENSP000002153754STRING: ENSP00000215375
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006812cation transport ----
    GO:0008360regulation of cell shape NAS11353404
    GO:0015914phospholipid transport ----
    GO:0034220ion transmembrane transport TAS--
    GO:0045332phospholipid translocation NAS--

    ATP10A 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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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATP10A (AT10A)

    Selected HMDB Compounds for ATP10A (see all 2605)    About this table
    CompoundSynonyms CAS #PubMed Ids
    PC(O-16:0/18:2(9Z,12Z))1-hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine (see all 5)88542-95-412486725
    PE(O-16:1(1Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))1-alkenyl-2-acyl-glycerophosphoethanolamine (see all 15)--12486725
    PE(O-18:1(1Z)/20:4(5Z,8Z,11Z,14Z))1-alkenyl-2-acyl-glycerophosphoethanolamine (see all 19)103597-60-012486725
    PE(P-16:0e/0:0)2-azaniumylethyl [(2R)-3-[(E)-hexadec-1-enoxy]-2-hydroxy-propyl] phosphate;1-(1Z-hexadecenyl)-sn-glycero-3-phosphoethanolamine ;LysoPE(dm16:0e) --12486725
    PE(P-16:0e/18:1(9Z))2-(9Z-octadecanoyl)-1-hexadecyl-sn-glycero-3-phosphoethanolamine --12486725
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    PA(16:0/16:0)Dipalmitoylphosphatidic acid (see all 25)7091-44-3--
    PA(16:0/18:1(11Z))PA(16:0/18:1n7) (see all 10)----
    PA(16:0/18:1(9Z))PA(16:0/18:1n9) (see all 10)----



    (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 ATP10A gene: 
    NM_024490.3  

    Unigene Cluster for ATP10A:

    ATPase, class V, type 10A
    Hs.659258  [show with all ESTs]
    Unigene Representative Sequence: AB051358
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356865(uc010ayu.3) ENST00000555815 ENST00000555450 ENST00000555756
    ENST00000389967(uc001zax.3) ENST00000553577
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ATP10A (see all 18):
    hsa-miR-498 hsa-miR-16-2* hsa-miR-137 hsa-miR-1263 hsa-miR-1297 hsa-miR-3662 hsa-miR-26b hsa-miR-3182
    SwitchGear 3'UTR luciferase reporter plasmidATP10A 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ATP10A
    Predesigned siRNA for gene silencing in human, mouse, rat ATP10A
    Clone
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    GenScript: all cDNA clones in your preferred vector: ATP10A (NM_024490)
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    Primer
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    OriGene qPCR primer pairs and template standards for ATP10A
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ATP10A
      QuantiTect SYBR Green Assays in human, mouse, rat ATP10A
      QuantiFast Probe-based Assays in human, mouse, rat ATP10A

    Additional mRNA sequence: 

    AB011138.1 AB051358.1 BC038712.1 BC052251.1 

    6 DOTS entries:

    DT.410670  DT.95144744  DT.75101968  DT.121054372  DT.95254918  DT.97817238 

    Selected AceView cDNA sequences (see all 50):

    BC052251 BF196814 AI363070 AI678763 BQ678750 CD369148 C01915 AW292234 
    BC038712 AB051358 BG057312 BQ892613 AI637662 BM991757 BQ006078 BU623700 
    NM_024490 AL698126 BG762738 AI219449 AI471965 AW449798 AI761744 AI160680 

    GeneLoc Exon Structure


    (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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    ATP10A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCCCAGAG
    ATP10A Expression
    About this image


    ATP10A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Germ Cells (Reproductive System)
             Primordial germ cell-like cells
     
     Heart (Cardiovascular System)
             Mature Cardiac Fibroblasts Myocardium
     
     Fibroblasts
             Mature Cardiac Fibroblasts Myocardium
     
     Endothelium (Cardiovascular System)
             Adult Endothelial Cells Blood Brain Barrier
    ATP10A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP10A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.659258

    UniProtKB/Swiss-Prot: AT10A_HUMAN, O60312
    Tissue specificity: Widely expressed, with highest levels in kidney, followed by lung, brain, prostate, testis,
    ovary and small intestine

        Custom PCR Arrays for ATP10A
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat ATP10A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP10A

    (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 ATP10A gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp10a1 , 5 ATPase, class V, type 10A1, 5 81.66(n)1
    82.67(a)1
      7 (33.88 cM)5
    119821  NM_009728.21  NP_033858.21 
     586582025 
    chicken
    (Gallus gallus)
    Aves ATP10A1 ATPase, class V, type 10A 68.67(n)
    71.98(a)
      418685  XM_416881.4  XP_416881.3 
    lizard
    (Anolis carolinensis)
    Reptilia ATP10A6
    ATPase, class V, type 10A
    64(a)
    1 ↔ 1
    3(109752836-109921158)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480439032   -- 75.64(n)    48043903 
    zebrafish
    (Danio rerio)
    Actinopterygii atp10a1 ATPase, class V, type 10A 68.8(n)
    72.02(a)
      567172  XM_690464.3  XP_695556.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG332986
    --
    35(a)
    1 → many
    2L(9495474-9520696)
    worm
    (Caenorhabditis elegans)
    Secernentea tat-36
    tat-46
    Protein TAT-4, isoform a
    35(a)
    28(a)
    many ↔ many
    many ↔ many
    III(10722147-10730174) WBGene00012360
    II(6234483-6244233) WBGene00020784
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DNF11 DNF1 46.57(n)
    41.01(a)
      856913   NP_011093.3 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ALA11 ALA1 49.55(n)
    42.92(a)
      830375  NM_120575.2  NP_568146.1 
    rice
    (Oryza sativa)
    Liliopsida NM_188101.12   -- 69.91(n)    NM_188101.1 


    ENSEMBL Gene Tree for ATP10A (if available)
    TreeFam Gene Tree for ATP10A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP10A gene
    ATP10B2  ATP10D2  
    8 SIMAP similar genes for ATP10A using alignment to 4 protein entries:     AT10A_HUMAN (see all proteins):
    ATP10D    ATP8B4    ATP8A2    ATP10B    ATP8B1    ATP11A
    ATP8B3    ATP8B2

    ATP10A for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ATP10A
    PGOHUM00000261915


    (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 ATP10A (see all 4689)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs20667101,2
    C,F,O,A,H--5917114(-) CCGGGA/GCTGTG 1 -- ds5001 ese330Minor allele frequency- G:0.45NA NS EA WA CSA 3994
    rs1172491611,2
    F--5917119(+) TCCCGG/ATGCCG 1 -- ds50011Minor allele frequency- A:0.01NA 120
    rs1408059911,2
    --5917123(+) GGTGCC/TGAGCA 1 -- ds50010--------
    rs20667091,2
    C,F,H--5917174(-) TCTTCT/CGAGCC 1 -- ds5001 ese335Minor allele frequency- C:0.20NA NS EA WA CSA 4421
    rs2003745151,2
    C--5917251(+) ACAGA-/ACTAATGG 1 -- ds50010--------
    rs1450670551,2
    --5917261(+) TGGCTC/TATTAC 1 -- ds50010--------
    rs20667081,2
    C,F,A,H--5917339(-) ACAGCC/TGGCCA 1 -- ds5001 ese330Minor allele frequency- T:0.48NA NS EA WA CSA 3975
    rs1842499971,2
    --5917408(+) CCTTAC/TGGAAG 1 -- ds50010--------
    rs20667071,2
    C,F,H--5917420(-) GATCTG/CAGGGC 1 -- ds5001 ese336Minor allele frequency- C:0.46NA NS EA WA CSA 3949
    rs1388497041,2
    --5917530(+) ACAGGA/CAAAAT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ATP10A (25922420 - 26110317 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ATP10A (see all 21):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2749466CNV Deletion23290073
    esv2440000CNV Deletion19546169
    esv2749465CNV Deletion23290073
    nsv820339CNV Deletion20802225
    esv2660747CNV Deletion23128226
    esv2346004CNV Deletion18987734
    esv1673422CNV Insertion17803354
    nsv527556CNV Loss19592680
    nsv903727CNV Loss21882294
    nsv903726CNV Loss21882294

    Human Gene Mutation Database (HGMD): ATP10A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP10A
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP10A

    (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: 605855    OMIM disorders: --

    UniProtKB/Swiss-Prot: AT10A_HUMAN, O60312
  • Angelman syndrome (AS) [MIM:105830]: A neurodevelopmental disorder characterized by severe motor and
    intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia,
    seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open-mouthed expression
    revealing the tongue. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 15 diseases for ATP10A:    
    About MalaCards
    angelman syndrome    autistic disorder    smallpox    prader-willi syndrome
    hypotonia    microcephaly    ataxia    insulin resistance
    type 1 diabetes    obesity    hypertension    multiple myeloma
    myeloma    prostatitis    endotheliitis

    3 diseases from the University of Copenhagen DISEASES database for ATP10A:
    Angelman syndrome     Prader-Willi syndrome     Autistic disorder

    ATP10A for disorders           About GeneDecksing

    Genetic Association Database (GAD): ATP10A
    Human Genome Epidemiology (HuGE) Navigator: ATP10A (6 documents)

    Export disorders for ATP10A 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 ATP10A gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with ATP10A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2, 3 Nagase T....Ohara O. (DNA Res. 1998)
    2. A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome. (PubMed id 11326269)1, 2, 9 Meguro M....Oshimura M. (Nat. Genet. 2001)
    3. Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A. (PubMed id 20609483)1, 4 Guffanti G....Russo S. (Psychiatry Res 2011)
    4. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    7. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    8. Association study of the 15q11-q13 maternal expression domain in Japanese autistic patients. (PubMed id 18186074)1, 4 Kato C....Sasaki T. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008)
    9. 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)
    10. The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression. (PubMed id 11353404)1, 2 Herzing L.B.K.... Ledbetter D.H. (Am. J. Hum. Genet. 2001)

    (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: 57194 HGNC: 13542 AceView: ATP10A Ensembl:ENSG00000206190 euGenes: HUgn57194
    ECgene: ATP10A H-InvDB: ATP10A

    (According to HUGE)
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    HUGE: KIAA0566

    (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 ATP10A 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 ATP10A gene:
    Search GeneIP for patents involving ATP10A

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



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