Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ATP8A1 Gene

Aliases for ATP8A1 Gene

  • ATPase Phospholipid Transporting 8A1 2 3
  • ATPase, Aminophospholipid Transporter (APLT), Class I, Type 8A, Member 1 2 3 5
  • P4-ATPase Flippase Complex Alpha Subunit ATP8A1 3 4
  • ATPase Class I Type 8A Member 1 3 4
  • Chromaffin Granule ATPase II 3 4
  • EC 3.6.3.1 4 63
  • ATPIA 3 4
  • Probable Phospholipid-Transporting ATPase IA 3
  • Aminophospholipid Translocase 3
  • ATPase II 3
  • ATPASEII 3
  • EC 3.6.3 63
  • ATPP2 3

External Ids for ATP8A1 Gene

Previous GeneCards Identifiers for ATP8A1 Gene

  • GC04M042486
  • GC04M042698
  • GC04M042263
  • GC04M042330
  • GC04M042325
  • GC04M042255
  • GC04M042105
  • GC04M041732

Summaries for ATP8A1 Gene

Entrez Gene Summary for ATP8A1 Gene

  • The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATP8A1 Gene

ATP8A1 (ATPase Phospholipid Transporting 8A1) is a Protein Coding gene. Diseases associated with ATP8A1 include cerebellar ataxia, mental retardation and dysequlibrium syndrome and intrahepatic cholestasis. Among its related pathways are Ion channel transport and Cardiac conduction. GO annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP10A.

UniProtKB/Swiss-Prot for ATP8A1 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. In vitro, its ATPase activity is selectively and stereospecifically stimulated by phosphatidylserine (PS). The flippase complex ATP8A1:TMEM30A seems to play a role in regulation of cell migration probably involving flippase-mediated translocation of phosphatidylethanolamine (PE) at the plasma membrane. Acts as aminophospholipid translocase at the plasma membrane in neuronal cells.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP8A1 Gene

Genomics for ATP8A1 Gene

Regulatory Elements for ATP8A1 Gene

Enhancers for ATP8A1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ATP8A1 on UCSC Golden Path with GeneCards custom track

Promoters for ATP8A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATP8A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP8A1 Gene

Chromosome:
4
Start:
42,408,373 bp from pter
End:
42,657,105 bp from pter
Size:
248,733 bases
Orientation:
Minus strand

Genomic View for ATP8A1 Gene

Genes around ATP8A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP8A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP8A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP8A1 Gene

Proteins for ATP8A1 Gene

  • Protein details for ATP8A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2Q0-AT8A1_HUMAN
    Recommended name:
    Phospholipid-transporting ATPase IA
    Protein Accession:
    Q9Y2Q0
    Secondary Accessions:
    • Q32M35
    • Q32M36
    • Q4W5J7
    • Q4W5P2

    Protein attributes for ATP8A1 Gene

    Size:
    1164 amino acids
    Molecular mass:
    131369 Da
    Quaternary structure:
    • Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit and an accessory beta subunit. Interacts with TMEM30A to form a flippase complex; the interaction with TMEM30B is reported conflictingly.
    SequenceCaution:
    • Sequence=AAI09318.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA77248.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ATP8A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP8A1 Gene

Proteomics data for ATP8A1 Gene at MOPED

Post-translational modifications for ATP8A1 Gene

  • Ubiquitination at Lys 594, Lys 922, Lys 1101, and Lys 1111
  • Modification sites at PhosphoSitePlus

Domains & Families for ATP8A1 Gene

Gene Families for ATP8A1 Gene

Suggested Antigen Peptide Sequences for ATP8A1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y2Q0

UniProtKB/Swiss-Prot:

AT8A1_HUMAN :
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
Family:
  • 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 ATP8A1: view

Function for ATP8A1 Gene

Molecular function for ATP8A1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).
UniProtKB/Swiss-Prot EnzymeRegulation:
ATPase activity is stimulated by phosphatidylserine (PS) and minimally by phosphatidylethanolamine (PE).
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. In vitro, its ATPase activity is selectively and stereospecifically stimulated by phosphatidylserine (PS). The flippase complex ATP8A1:TMEM30A seems to play a role in regulation of cell migration probably involving flippase-mediated translocation of phosphatidylethanolamine (PE) at the plasma membrane. Acts as aminophospholipid translocase at the plasma membrane in neuronal cells.

Enzyme Numbers (IUBMB) for ATP8A1 Gene

Gene Ontology (GO) - Molecular Function for ATP8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0019829 cation-transporting ATPase activity NAS 10198212
genes like me logo Genes that share ontologies with ATP8A1: view
genes like me logo Genes that share phenotypes with ATP8A1: view

Animal Models for ATP8A1 Gene

MGI Knock Outs for ATP8A1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP8A1

miRNA for ATP8A1 Gene

miRTarBase miRNAs that target ATP8A1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP8A1 Gene

Localization for ATP8A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP8A1 Gene

Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane; Multi-pass membrane protein. Cytoplasmic granule. Cell membrane. Endoplasmic reticulum. Golgi apparatus. Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not TMEM30B (PubMed:20947505). In the presence of TMEM30A, predominantly located in cytoplasmic punctate structures and localizes to the plasma membrane (PubMed:20947505). Localizes to plasma membranes of red blood cells (By similarity). {ECO:0000250 UniProtKB:P70704, ECO:0000269 PubMed:20947505}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP8A1 Gene COMPARTMENTS Subcellular localization image for ATP8A1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
golgi apparatus 5
plasma membrane 5
peroxisome 2
vacuole 1

Gene Ontology (GO) - Cellular Components for ATP8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005802 trans-Golgi network IBA --
GO:0042584 chromaffin granule membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with ATP8A1: view

Pathways & Interactions for ATP8A1 Gene

genes like me logo Genes that share pathways with ATP8A1: view

Pathways by source for ATP8A1 Gene

1 BioSystems pathway for ATP8A1 Gene

Gene Ontology (GO) - Biological Process for ATP8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007612 learning IEA --
GO:0034220 ion transmembrane transport TAS --
GO:0045332 phospholipid translocation IEA,NAS 21914794
GO:0048194 Golgi vesicle budding IBA --
GO:0061092 positive regulation of phospholipid translocation IEA --
genes like me logo Genes that share ontologies with ATP8A1: view

No data available for SIGNOR curated interactions for ATP8A1 Gene

Drugs & Compounds for ATP8A1 Gene

(12) Drugs for ATP8A1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphatidylserine Approved Nutra Target 0
Adenosine triphosphate Approved Nutra 0

(539) Additional Compounds for ATP8A1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
PA(16:0/16:0)
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphorate
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphoric acid
  • 1,2-Dihexadecanoyl-rac-phosphatidic acid
  • 1,2-Dipalmitoyl-3-sn-phosphatidate
  • 1,2-Dipalmitoyl-3-sn-phosphatidic acid
7091-44-3
PA(16:0/18:1(11Z))
  • 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)
PA(16:0/18:1(9Z))
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-oleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n9)
  • PA(16:0/18:1w9)
PA(16:0/18:2(9Z,12Z))
  • 1-Hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:2)
  • PA(16:0/18:2n6)
  • PA(16:0/18:2w6)
genes like me logo Genes that share compounds with ATP8A1: view

Transcripts for ATP8A1 Gene

Unigene Clusters for ATP8A1 Gene

ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATP8A1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^
SP1: - - - - -
SP2: - - - - - -
SP3:
SP4:
SP5:
SP6:
SP7:

ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39a · 39b
SP1:
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:

Relevant External Links for ATP8A1 Gene

GeneLoc Exon Structure for
ATP8A1
ECgene alternative splicing isoforms for
ATP8A1

Expression for ATP8A1 Gene

mRNA expression in normal human tissues for ATP8A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATP8A1 Gene

This gene is overexpressed in Brain (20.1), Frontal cortex (14.3), Stomach (12.3), and Peripheral blood mononuclear cells (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP8A1 Gene



SOURCE GeneReport for Unigene cluster for ATP8A1 Gene Hs.435052

mRNA Expression by UniProt/SwissProt for ATP8A1 Gene

Q9Y2Q0-AT8A1_HUMAN
Tissue specificity: Found in most adult tissues except liver, testis and placenta. Most abundant in heart, brain and skeletal muscle. Also detected in fetal tissues. Isoform 1 is only detected in brain, skeletal muscle and heart and is the most abundant form in skeletal muscle.
genes like me logo Genes that share expression patterns with ATP8A1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for ATP8A1 Gene

Orthologs for ATP8A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP8A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATP8A1 35
  • 92.57 (n)
  • 97.3 (a)
ATP8A1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP8A1 35
  • 91.75 (n)
  • 97.59 (a)
ATP8A1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp8a1 35
  • 88.43 (n)
  • 97.16 (a)
Atp8a1 16
Atp8a1 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP8A1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP8A1 36
  • 100 (a)
OneToOne
ATP8A1 35
  • 99.54 (n)
  • 99.74 (a)
rat
(Rattus norvegicus)
Mammalia Atp8a1 35
  • 88.18 (n)
  • 96.99 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia ATP8A1 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP8A1 35
  • 83.45 (n)
  • 92.44 (a)
ATP8A1 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP8A1 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp8a1 35
  • 78.86 (n)
  • 88.33 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4849 35
zebrafish
(Danio rerio)
Actinopterygii atp8a1 36
  • 78 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG17034 37
  • 57 (a)
CG9981 37
  • 34 (a)
CG42321 35
  • 57.12 (n)
  • 58.26 (a)
CG42321 36
  • 48 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011483 35
  • 24.55 (n)
  • 5.57 (a)
worm
(Caenorhabditis elegans)
Secernentea T24H7.5a 37
  • 35 (a)
T24H7.5b 37
  • 35 (a)
Y49E10.11 37
  • 47 (a)
tat-1 35
  • 52.9 (n)
  • 49.54 (a)
tat-1 36
  • 45 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DRS2 38
DRS2 36
  • 39 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.24017 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4389 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 57 (a)
OneToMany
Species with no ortholog for ATP8A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP8A1 Gene

ENSEMBL:
Gene Tree for ATP8A1 (if available)
TreeFam:
Gene Tree for ATP8A1 (if available)

Paralogs for ATP8A1 Gene

genes like me logo Genes that share paralogs with ATP8A1: view

Variants for ATP8A1 Gene

Sequence variations from dbSNP and Humsavar for ATP8A1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs3792687 - 42,507,084(-) AGAAA(C/T)GCTAA nc-transcript-variant, reference, missense
rs898500 -- 42,637,169(+) TGATC(A/G)ACATG intron-variant
rs1123747 -- 42,656,379(-) CCTTG(C/G)CTCTC intron-variant
rs1125199 -- 42,434,154(+) AAGTC(A/G)CAGAA intron-variant
rs1136694 -- 42,408,856(-) ATGTG(A/G)GCAGA nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ATP8A1 Gene

Variant ID Type Subtype PubMed ID
nsv509890 CNV Loss 20534489
esv2670930 CNV Deletion 23128226
esv2727491 CNV Deletion 23290073
esv1688400 CNV Deletion 17803354
nsv819220 CNV Gain 19587683
nsv829917 CNV Loss 17160897
nsv829918 CNV Gain 17160897
esv2727492 CNV Deletion 23290073
esv2667888 CNV Deletion 23128226

Variation tolerance for ATP8A1 Gene

Residual Variation Intolerance Score: 2.66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.16; 61.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP8A1 Gene

HapMap Linkage Disequilibrium report
ATP8A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP8A1 Gene

Disorders for ATP8A1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ATP8A1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cerebellar ataxia, mental retardation and dysequlibrium syndrome
  • camrq
intrahepatic cholestasis
  • intrahepatic cholestasis of pregnancy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ATP8A1

Genetic Association Database (GAD)
ATP8A1
Human Genome Epidemiology (HuGE) Navigator
ATP8A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP8A1
genes like me logo Genes that share disorders with ATP8A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP8A1 Gene

Publications for ATP8A1 Gene

  1. Cloning, expression, and chromosomal mapping of a human ATPase II gene, member of the third subfamily of P-type ATPases and orthologous to the presumed bovine and murine aminophospholipid translocase. (PMID: 10198212) Mouro I. … Colin Y. (Biochem. Biophys. Res. Commun. 1999) 2 3 4 23 67
  2. Activated scramblase and inhibited aminophospholipid translocase cause phosphatidylserine exposure in a distinct platelet fraction. (PMID: 15971000) Wolfs J.L. … Bevers E.M. (Cell. Mol. Life Sci. 2005) 23 25 26
  3. Fas-, caspase 8-, and caspase 3-dependent signaling regulates the activity of the aminophospholipid translocase and phosphatidylserine externalization in human erythrocytes. (PMID: 16179347) Mandal D. … Basu J. (J. Biol. Chem. 2005) 23 25 26
  4. Mechanical constraint imposed on plasma membrane through transverse phospholipid imbalance induces reversible actin polymerization via phosphoinositide 3-kinase activation. (PMID: 12697835) Bettache N. … Bienvenue A. (J. Cell. Sci. 2003) 23 25 26
  5. Nitrosative stress inhibits the aminophospholipid translocase resulting in phosphatidylserine externalization and macrophage engulfment: implications for the resolution of inflammation. (PMID: 17229723) Tyurina Y.Y. … Kagan V.E. (J. Biol. Chem. 2007) 3 23

Products for ATP8A1 Gene

Sources for ATP8A1 Gene

Content