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

ATP10A Gene

protein-coding   GIFtS: 56
GCID: GC15M025923

ATPase, class V, type 10A

(Previous names: ATPase, Class V, type 10C, ATPase, Class V, type 10A )
(Previous symbol: ATP10C)
 Explore 9 diseases affiliated with
ATP10A via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ATP10A    

Aliases
for ATP10A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
ATPase, Class V, Type 10A1 2     EC 3.6.3.13 8
ATP10C1 2 3 5     ATPase Type IV, Phospholipid Transporting (P-Type)2
ATPVC1 2 3 5     Phospholipid-Transporting ATPase VA2
ATPVA1 2 3     Probable Phospholipid-Transporting ATPase VA2
ATPase, Class V, Type 10C1 2     ATPase Class V Type 10A3
KIAA05661 3     EC 3.6.38
Aminophospholipid Translocase VA2 3     

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


Summaries
for ATP10A gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ATP10A:
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)

Gene Wiki entry for ATP10A


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_026446.14  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ATP10A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ATP10A gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: AT10A_HUMAN, O60312 (See protein sequence)
Recommended Name: Probable phospholipid-transporting ATPase VA  
Size: 1499 amino acids; 167688 Da
Subcellular location: 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
Secondary accessions: Q969I4

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O60312

    • 4/18 DME Specific Peptides for ATP10A (O60312) (see all 18)
     LAIGDGA  NDVSMIQ  TLAIGDG  EGMQAVM 

    ATP10A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_077816.1  
    ENSEMBL proteins: 
     ENSP00000349325   ENSP00000450480   ENSP00000451615   ENSP00000374617  
    Reactome Protein details: O60312
    Human Recombinant Protein Products: 
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    Uscn Proteins for ATP10A

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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


    ATP10A for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ATP10A

    Protein Domains /
    Families
    for ATP10A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ATP10A for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR023306 ATPase_cation_domN
     IPR023299 ATPase_P-typ_cyto_domN
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR023214 HAD-like_dom
     IPR006539 ATPase_P-typ_Plipid-transp

    Graphical View of Domain Structure for InterPro Entry O60312

    ProtoNet protein and cluster: O60312

    1 Blocks protein family: 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


    Function
    for ATP10A gene

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

         UniProtKB/Swiss-Prot: 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

    miRNA
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    8/18 QIAGEN miScript miRNA 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 plasmid: ATP10A 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATP10A (see all 7)
    OriGene shRNA RFP: ATP10A
    OriGene siRNA: ATP10A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATP10A

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ATP10A

    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP10A 

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    In Situ Assay
    Products:       
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IEA--
    GO:0004012phospholipid-translocating ATPase activity NAS11353404
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
    GO:0015662ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism IEA--


    ATP10A for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ATP10A:
     Synthetic lethal with Ras 


    Pathways & Interactions
    for ATP10A gene

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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Ion channel transport
    		Ion channel transport1.00
    		Ion transport by P-type ATPases0.32
    2SLC-mediated transmembrane transport
    		Transmembrane transport of small molecules0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for ATP10A
        Transmembrane transport of small molecules
    Ion channel transport
    Ion transport by P-type ATPases



    ATP10A for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP10A

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006812cation transport IEA--
    GO:0008360regulation of cell shape NAS11353404
    GO:0034220ion transmembrane transport TAS--
    GO:0045332phospholipid translocation NAS--
    GO:0055085transmembrane transport TAS--


    ATP10A for ontologies           About GeneDecksing



    Drugs & Compounds
    for ATP10A gene

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

    Browse Tocris compounds for ATP10A

    10/2605 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)----
    Search CenterWatch for drugs/clinical trials and news about ATP10A / AT10A 

    Transcripts
    for ATP10A gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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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    8/18 QIAGEN miScript miRNA 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 plasmid: ATP10A 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATP10A (see all 7)
    OriGene shRNA RFP: ATP10A
    OriGene siRNA: ATP10A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATP10A
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATP10A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATP10A

    Additional cDNA sequence: 

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

    6 DOTS entries:

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

    24/50 AceView cDNA sequences (see all 50):

    BQ678750 CD369148 AW292234 BC052251 BC038712 BF196814 AI678763 AI363070 
    C01915 AI219449 AI761744 AA447437 AB011138 BG057312 NM_024490 BQ892613 
    AI471965 BU623886 BQ045169 AW449798 CD370471 AA348821 AI160680 AI452627 

    GeneLoc Exon Structure


    Expression
    for ATP10A gene

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

    ATP10A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCCCCAGAG

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

    ATP10A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ progenitor T36 (Embryonic Progenitor Cell)
    Primordial germ cell-like cells (Reconstitution of mo...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ATP10A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP10A

    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

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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP10A

    Orthologs
    for ATP10A gene

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

    Orthologs for ATP10A gene from 8/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ATP10A1 ATPase, class V, type 10A 68.36(n)
    71.35(a)    		   418685  XM_416881.3  XP_416881.3 
    lizard
    (Anolis carolinensis)    		 Reptilia ATP10A6
    --
    		 --
    		 74(a)
    65(a)
    		 1 ↔ many
    1 ↔ many
    		 3(109754800-109849470)
    3(109919511-109921134)
    African clawed frog
    (Xenopus laevis)    		 Amphibia 480439032   -- 75.64(n)    48043903 
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC5671721 probable phospholipid-transporting ATPase VA-like 68.41(n)
    71.31(a)    		   567172  XM_690464.2  XP_695556.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG332986
    		 --
    		 35(a)
    		 1 → many
    		 2L(9495474-9520696)
    worm
    (Caenorhabditis elegans)    		 Secernentea tat-36
    tat-46
    		 Transbilayer Amphipath Transporters (subfamily IV ...
    Transbilayer Amphipath Transporters (subfamily IV ...
    		 36(a)
    26(a)
    		 many ↔ many
    many ↔ many
    		 III(10722048-10730075)
    II(6234452-6244202)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ALA16
    		 phospholipid-transporting ATPase 1
    		 35(a)
    		 1 → many
    		 5(1444870-1449817)
    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
    for ATP10A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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


    Genomic Variants
    for ATP10A gene

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

    10/3958 NCBI SNPs in ATP10A are shown (see all 3958)     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,--25923487(-) CCGGGA/GCTGTG 1 -- ds5001 ese330Minor allele frequency- G:0.45NA NS EA WA CSA 3994
    rs1172491611,2
    		--25923492(+) TCCCGG/ATGCCG 1 -- ds50011Minor allele frequency- A:0.01NA 120
    rs1408059911,2
    		--25923496(+) GGTGCC/TGAGCA 1 -- ds50010--------
    rs20667091,2
    		C,F,H,--25923547(-) TCTTCT/CGAGCC 1 -- ds5001 ese335Minor allele frequency- C:0.20NA NS EA WA CSA 4421
    rs2003745151,2
    		--25923624(+) ACAGA-/ACTAATGG 1 -- ds50010--------
    rs1450670551,2
    		--25923634(+) TGGCTC/TATTAC 1 -- ds50010--------
    rs20667081,2
    		C,F,A,H,--25923712(-) ACAGCC/TGGCCA 1 -- ds5001 ese330Minor allele frequency- T:0.48NA NS EA WA CSA 3975
    rs1842499971,2
    		--25923781(+) CCTTAC/TGGAAG 1 -- ds50010--------
    rs20667071,2
    		C,F,H,--25923793(-) GATCTG/CAGGGC 1 -- ds5001 ese336Minor allele frequency- C:0.46NA NS EA WA CSA 3949
    rs1388497041,2
    		--25923903(+) ACAGGA/CAAAAT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ATP10A (25922420 - 26110317 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 17 variations for ATP10A
         5 CNVs: 61427 87517 76849 102058 0183
         12 Indels: 87519 76853 87518 87520 45323 76850 33596 76851 33280 87521 76852 66743
    Human Gene Mutation Database (HGMD): ATP10A

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    Disorders / Diseases
    for ATP10A gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ATP10A for disorders           About GeneDecksing

    OMIM gene information: 605855    OMIM disorders: --

    UniProtKB/Swiss-Prot: AT10A_HUMAN, O60312
  • Defects in ATP10A are a cause of Angelman syndrome (AS) [MIM:105830]; also known as 'happy puppet syndrome'.
    • AS is characterized by features of severe motor and intellectual retardation, microcephaly, ataxia, frequent jerky
    limb movements and flapping of the arms and hands, hypotonia, hyperactivity, hypopigmentation, seizures, absence of
    speech, frequent smiling and episodes of paroxysmal laughter, and an unusual facies characterized by macrostomia, a
    large mandible and open-mouthed expression, a great propensity for protruding the tongue ('tongue thrusting'), and an
    occipital groove

    9 diseases for ATP10A:    About MalaCards
    angelman syndrome    prader-willi syndrome    macrostomia    microcephaly
    hypotonia    pharyngitis    ataxia    obesity
    prostatitis

    3 diseases from the University of Copenhagen DISEASES database for ATP10A:
    Angelman syndrome     Prader-Willi syndrome     Autistic disorder
    Human Genome Epidemiology (HuGE) Navigator: ATP10A (6 documents)

    Export disorders for ATP10A gene to outside databases

    Publications
    for ATP10A gene

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

    PubMed articles for ATP10A gene, integrated from 9 sources (see all 24):
    (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. (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. (2001)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. 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. (2001)
    5. Differential expression of putative transbilayer amphipath transporters. (PubMed id 11015572)1, 3 Halleck M.S.... Schlegel R.A. (1999)
    6. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PubMed id 22610502)1 Kennedy R.B....Poland G.A. (2012)
    7. A dual epigenomic approach for the search of obesity biomarkers: DNA methylation in relation to diet-induced weight loss. (PubMed id 21209057)1 Milagro F.I....MartA-nez J.A. (2011)
    8. ATP9B, a P4-ATPase (a putative aminophospholipid translocase), localizes to the trans-Golgi network in a CDC50 protein-independent manner. (PubMed id 21914794)2 Takatsu H.... Shin H.W. (2011)
    9. Genome-wide detection of allele specific copy number v ariation associated with insulin resistance in African Americans from the HyperG EN study. (PubMed id 21901158)1 Irvin M.R....Arnett D.K. (2011)
    10. Role of UBE3A and ATP10A genes in autism susceptibili ty region 15q11-q13 in an Italian population: A positive replication for UBE3A. (PubMed id 20609483)1 Guffanti G....Russo S. (2011)

    External Searches for ATP10A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing ATP10A gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57194 HGNC: 13542 AceView: ATP10A Ensembl:ENSG00000206190 euGenes: HUgn57194
    ECgene: ATP10A H-InvDB: ATP10A

    Other Databases showing ATP10A gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0566

    Specialized Databases showing ATP10A gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATP10A Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ATP10A gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ATP10A gene:
    Search GeneIP for patents involving ATP10A

    GeneCards and IP:
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