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Aliases for ATP10A Gene

Aliases for ATP10A Gene

  • ATPase Phospholipid Transporting 10A (Putative) 2 3 5
  • ATP10C 2 3 4
  • P4-ATPase Flippase Complex Alpha Subunit ATP10A 3 4
  • Aminophospholipid Translocase VA 3 4
  • ATPVA 3 4
  • ATPVC 3 4
  • ATPase Type IV, Phospholipid Transporting (P-Type) 3
  • Probable Phospholipid-Transporting ATPase VA 3
  • Phospholipid-Transporting ATPase VA 3
  • ATPase, Class V, Type 10C 3
  • ATPase, Class V, Type 10A 3
  • ATPase Class V Type 10A 4
  • EC 4
  • KIAA0566 4

External Ids for ATP10A Gene

Previous HGNC Symbols for ATP10A Gene

  • ATP10C

Previous GeneCards Identifiers for ATP10A Gene

  • GC15U990117
  • GC15M018670
  • GC15M023340
  • GC15M023469
  • GC15M023473
  • GC15M025923
  • GC15M004050
  • GC15M025677

Summaries for ATP10A Gene

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 Phospholipid Transporting 10A (Putative)) is a Protein Coding gene. Diseases associated with ATP10A include Angelman Syndrome and Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13. Among its related pathways are Cardiac conduction and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP10D.

UniProtKB/Swiss-Prot for ATP10A Gene

  • Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable).

Gene Wiki entry for ATP10A Gene

Additional gene information for ATP10A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP10A Gene

Genomics for ATP10A Gene

GeneHancer (GH) Regulatory Elements for ATP10A Gene

Promoters and enhancers for ATP10A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J025858 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 653.3 +3.8 3821 5.7 HDAC2 ZFX EZH2 NR2F2 ATP10A LOC105370738 UBE3A MIR4715
GH15J025865 Promoter 0.5 EPDnew 650.7 +0.1 64 0.1 ATP10A LOC105370738 MIR4715
GH15J025783 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 13.9 +80.3 80252 3.4 CTCF USF1 MAX MNT ZNF143 FOS EGR2 MGA ATP10A GC15P025968 RNA5SP390
GH15J025787 Enhancer 1.1 Ensembl ENCODE dbSUPER 12.5 +75.7 75668 4.4 SOX5 TFAP4 SAP130 HLF EBF1 BATF RARA NR2F2 SKI FOSL1 ATP10A GC15P025968 RNA5SP390
GH15J025828 Enhancer 0.9 Ensembl ENCODE dbSUPER 12.5 +34.3 34301 4 ZBTB21 ZNF629 CREB1 ATF7 ATF2 ATP10A GC15P025968 MIR4715
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP10A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATP10A gene promoter:
  • Pax-5
  • Lmo2
  • PPAR-alpha
  • GATA-1
  • NF-kappaB1
  • NF-kappaB
  • ER-alpha
  • NF-1/L
  • NF-1
  • SEF-1 (1)

Genomic Locations for ATP10A Gene

Genomic Locations for ATP10A Gene
198,379 bases
Minus strand
187,898 bases
Minus strand

Genomic View for ATP10A Gene

Genes around ATP10A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP10A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP10A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP10A Gene

Proteins for ATP10A Gene

  • Protein details for ATP10A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Probable phospholipid-transporting ATPase VA
    Protein Accession:
    Secondary Accessions:
    • Q4G0S9
    • Q969I4

    Protein attributes for ATP10A Gene

    1499 amino acids
    Molecular mass:
    167688 Da
    Quaternary structure:
    • Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit and an accessory beta subunit.

    Alternative splice isoforms for ATP10A Gene


neXtProt entry for ATP10A Gene

Post-translational modifications for ATP10A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ATP10A Gene

Domains & Families for ATP10A Gene

Gene Families for ATP10A Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for ATP10A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
genes like me logo Genes that share domains with ATP10A: view

Function for ATP10A Gene

Molecular function for ATP10A Gene

UniProtKB/Swiss-Prot Function:
Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable).
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).

Enzyme Numbers (IUBMB) for ATP10A Gene

Phenotypes From GWAS Catalog for ATP10A Gene

Gene Ontology (GO) - Molecular Function for ATP10A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004012 phospholipid-translocating ATPase activity IBA,TAS --
GO:0005515 protein binding IPI 21914794
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ATP10A: view
genes like me logo Genes that share phenotypes with ATP10A: view

Animal Model Products

miRNA for ATP10A Gene

miRTarBase miRNAs that target ATP10A

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP10A Gene

Localization for ATP10A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP10A Gene

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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP10A gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
endosome 1

Gene Ontology (GO) - Cellular Components for ATP10A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA 21914794
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane TAS,IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 11353404
genes like me logo Genes that share ontologies with ATP10A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP10A Gene

Pathways & Interactions for ATP10A Gene

genes like me logo Genes that share pathways with ATP10A: view

Pathways by source for ATP10A Gene

Gene Ontology (GO) - Biological Process for ATP10A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
GO:0008360 regulation of cell shape NAS 11353404
GO:0015914 phospholipid transport IEA --
GO:0034220 ion transmembrane transport TAS --
GO:0045332 phospholipid translocation NAS 21914794
genes like me logo Genes that share ontologies with ATP10A: view

No data available for SIGNOR curated interactions for ATP10A Gene

Drugs & Compounds for ATP10A Gene

(3) Drugs for ATP10A Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
duloxetine Approved Pharma Antagonist 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(401) Additional Compounds for ATP10A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
  • 1,2-Dipalmitoyl-3-sn-phosphatidic acid
  • 1,2-Dipalmitoyl-sn-glycerol-3-phosphate
  • 1,2-Dipalmitoyl-sn-glycerol-3-phosphoric acid
  • Dipalmitoyl phosphatidic acid
  • PA(32:0)
  • 1-Hexadecanoyl-2-(11Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-vaccenoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1N7)
  • PA(16:0/18:1W7)
  • (2R)-1-(Palmitoyloxy)-3-(phosphonooxy)propan-2-yl (9Z)-octadec-9-enoate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycerol 3-phosphate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • PA(16:0/18:1)
  • 1-16:0-2-18:2-Phosphatidic acid
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-phosphate
  • 16:0-18:2-PA
  • 2-Linoleoyl-1-palmitoyl-sn-glycero-3-phosphate
  • PA(16:0/18:2)
genes like me logo Genes that share compounds with ATP10A: view

Transcripts for ATP10A Gene

Unigene Clusters for ATP10A Gene

ATPase, class V, type 10A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP10A Gene

No ASD Table

Relevant External Links for ATP10A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ATP10A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP10A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP10A Gene

This gene is overexpressed in Artery - Aorta (x4.7), Artery - Tibial (x4.3), and Artery - Coronary (x4.2).

Protein differential expression in normal tissues from HIPED for ATP10A Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ATP10A Gene

Protein tissue co-expression partners for ATP10A Gene

NURSA nuclear receptor signaling pathways regulating expression of ATP10A Gene:


SOURCE GeneReport for Unigene cluster for ATP10A Gene:


mRNA Expression by UniProt/SwissProt for ATP10A Gene:

Tissue specificity: Widely expressed, with highest levels in kidney, followed by lung, brain, prostate, testis, ovary and small intestine.

Evidence on tissue expression from TISSUES for ATP10A Gene

  • Nervous system(4.2)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with ATP10A: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP10A Gene

Orthologs for ATP10A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP10A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ATP10A 34 33
  • 99.13 (n)
(Canis familiaris)
Mammalia ATP10A 34 33
  • 85.16 (n)
(Bos Taurus)
Mammalia ATP10A 34 33
  • 83.69 (n)
(Mus musculus)
Mammalia Atp10a 16 34 33
  • 81.66 (n)
(Rattus norvegicus)
Mammalia Atp10a 33
  • 81.18 (n)
(Monodelphis domestica)
Mammalia ATP10A 34
  • 68 (a)
(Ornithorhynchus anatinus)
Mammalia ATP10A 34
  • 64 (a)
(Gallus gallus)
Aves ATP10A 34 33
  • 68.67 (n)
(Anolis carolinensis)
Reptilia ATP10A 34
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia atp10a 33
  • 68.55 (n)
(Danio rerio)
Actinopterygii atp10a 34 33
  • 68.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG33298 34
  • 35 (a)
(Caenorhabditis elegans)
Secernentea tat-3 34
  • 35 (a)
tat-4 34
  • 28 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR120C 33
  • 48.99 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C17644g 33
  • 46.9 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DNF1 34 33
  • 46.57 (n)
DNF2 34
  • 25 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ALA1 33
  • 49.55 (n)
(Oryza sativa)
Liliopsida Os01g0277600 33
  • 51.21 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07443 33
  • 50.44 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC24B11.12c 33
  • 46.14 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
Species where no ortholog for ATP10A was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP10A Gene

Gene Tree for ATP10A (if available)
Gene Tree for ATP10A (if available)
Evolutionary constrained regions (ECRs) for ATP10A: view image

Paralogs for ATP10A Gene

(8) SIMAP similar genes for ATP10A Gene using alignment to 4 proteins:

  • G3V261_HUMAN
  • Q4G0S9_HUMAN Pseudogenes for ATP10A Gene

genes like me logo Genes that share paralogs with ATP10A: view

Variants for ATP10A Gene

Sequence variations from dbSNP and Humsavar for ATP10A Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs376579126 likely-benign, not specified 25,718,174(-) A/G intron_variant
rs750275239 likely-benign, not specified 25,718,403(-) C/A/T intron_variant
rs1057522705 uncertain-significance, not specified 25,680,871(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs200358485 uncertain-significance, not specified 25,701,948(-) C/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs1000014689 -- 25,817,190(-) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ATP10A Gene

Variant ID Type Subtype PubMed ID
dgv1180n106 CNV deletion 24896259
dgv427n67 CNV loss 20364138
dgv4392n54 CNV loss 21841781
dgv4393n54 CNV loss 21841781
dgv4394n54 CNV loss 21841781
esv1005072 CNV gain 20482838
esv1007072 CNV gain 20482838
esv1673422 CNV insertion 17803354
esv2346004 CNV deletion 18987734
esv2440000 CNV deletion 19546169
esv2660747 CNV deletion 23128226
esv27156 CNV gain+loss 19812545
esv275525 CNV loss 21479260
esv3552221 CNV deletion 23714750
esv3569331 CNV gain 25503493
esv3635933 CNV loss 21293372
esv3635934 CNV loss 21293372
esv3635936 CNV gain 21293372
esv7296 CNV loss 19470904
nsv1070032 CNV deletion 25765185
nsv456732 CNV loss 19166990
nsv476277 CNV novel sequence insertion 20440878
nsv483024 CNV loss 15286789
nsv512389 CNV loss 21212237
nsv527556 CNV loss 19592680
nsv568586 CNV loss 21841781
nsv568594 CNV gain+loss 21841781
nsv820339 CNV deletion 20802225
nsv827260 CNV loss 20364138
nsv9201 CNV gain+loss 18304495
nsv958808 CNV deletion 24416366

Variation tolerance for ATP10A Gene

Residual Variation Intolerance Score: 77.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.54; 98.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP10A Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP10A Gene

Disorders for ATP10A Gene

MalaCards: The human disease database

(2) MalaCards diseases for ATP10A Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards


  • 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. {ECO:0000269 PubMed:11326269}. Note=The gene represented in this entry may be involved in disease pathogenesis.

Additional Disease Information for ATP10A

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ATP10A: view

No data available for Genatlas for ATP10A Gene

Publications for ATP10A Gene

  1. A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome. (PMID: 11326269) Meguro M … Oshimura M (Nature genetics 2001) 3 4 22 58
  2. Phospholipid Flippase ATP10A Translocates Phosphatidylcholine and Is Involved in Plasma Membrane Dynamics. (PMID: 25947375) Naito T … Shin HW (The Journal of biological chemistry 2015) 2 3 58
  3. Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A. (PMID: 20609483) Guffanti G … Russo S (Psychiatry research 2011) 3 44 58
  4. ATP9B, a P4-ATPase (a putative aminophospholipid translocase), localizes to the trans-Golgi network in a CDC50 protein-independent manner. (PMID: 21914794) Takatsu H … Shin HW (The Journal of biological chemistry 2011) 3 4 58
  5. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 44 58

Products for ATP10A Gene

Sources for ATP10A Gene

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