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 ... See more...

Aliases for ATP8A1 Gene

Aliases for ATP8A1 Gene

  • ATPase Phospholipid Transporting 8A1 2 3 5
  • ATPase, Aminophospholipid Transporter (APLT), Class I, Type 8A, Member 1 2 2 3
  • ATPIA 2 3 4
  • P4-ATPase Flippase Complex Alpha Subunit ATP8A1 3 4
  • Phospholipid-Transporting ATPase IA 3 4
  • ATPase Class I Type 8A Member 1 3 4
  • Chromaffin Granule ATPase II 3 4
  • Probable Phospholipid-Transporting ATPase IA 3
  • Aminophospholipid Translocase 3
  • EC 3.6.3.1 51
  • EC 7.6.2.1 4
  • ATPase II 3
  • ATPASEII 3
  • EC 3.6.3 51
  • ATP8A1 5
  • 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 Cholestasis, Benign Recurrent Intrahepatic, 1 and Robinow Syndrome, Autosomal Dominant 2. Among its related pathways are Peptide ligand-binding receptors and Innate Immune System. Gene Ontology (GO) annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP8A2.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP8A1 Gene

Genomics for ATP8A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP8A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J042653 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 632 +0.9 900 5.4 SP1 HNRNPL CREB1 GATAD2A ATF7 ZNF629 PRDM10 LEF1 POLR2A ZNF692 ATP8A1 ENSG00000260519 piR-35674-391 SHISA3
GH04J042626 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 33.9 +22.0 22004 19.8 SP1 POLR2A BACH1 STAT3 ZNF143 RELA SMAD5 TCF12 IKZF2 RCOR1 ATP8A1 SHISA3 GRXCR1 piR-35674-391
GH04J042647 Enhancer 0.8 Ensembl ENCODE dbSUPER 18.1 +10.2 10205 3 PKNOX1 USF2 TBX21 BHLHE40 ZNF687 MLLT1 RAD51 ATP8A1 piR-35674-391 SHISA3
GH04J042397 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 5.8 +258.7 258705 3.6 PRDM10 KDM1A ZNF692 PRDM1 ZIC2 POLR2A EZH2 ZNF600 SCRT2 ZBTB20 SHISA3 ATP8A1 lnc-BEND4-4
GH04J042617 Enhancer 0.5 Ensembl ENCODE dbSUPER 17.7 +38.8 38834 1.4 ATP8A1 piR-35674-391 SHISA3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP8A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP8A1

Top Transcription factor binding sites by QIAGEN in the ATP8A1 gene promoter:
  • aMEF-2
  • AML1a
  • AP-4
  • C/EBPalpha
  • Cart-1
  • Egr-3
  • Evi-1
  • HSF2
  • MEF-2A
  • NF-kappaB1

Genomic Locations for ATP8A1 Gene

Genomic Locations for ATP8A1 Gene
chr4:42,408,373-42,657,105
(GRCh38/hg38)
Size:
248,733 bases
Orientation:
Minus strand
chr4:42,410,390-42,659,122
(GRCh37/hg19)
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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA77248.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ATP8A1 Gene

    Alternative splice isoforms for ATP8A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP8A1 Gene

Selected DME Specific Peptides for ATP8A1 Gene

Q9Y2Q0:
  • TAIEDKLQ
  • DTKLMQNS
  • SPDEGALV
  • TLAIGDG
  • YQAASPDE
  • DVDSLMR
  • QILILFC
  • IGDGANDVSMI
  • RHKADNA
  • LLRGAQLRNT
  • NDVSMIQ
  • FSDKTGTLT
  • SDKTGTLTCN
  • FFLFIALLQQIPDVSPTGRYTTLVPL
  • AHVGVGISG
  • DGETNLK
  • LTGDKQETA
  • PNRHLYDF
  • DKTGTLT
  • ARTSNLN
  • LNEELGQV
  • TLGIFERSC
  • WFAFVNGFSGQILFERWCIGLYNV
  • CKAVICCRV
  • VPETIETL
  • LAIGDGA
  • KCILYCFYKN
  • RKRMSVIVRTP
  • CTIAGVAY
  • FNTKVFW
  • NNLIPISLLVTLEVVK
  • RAYDTTK

Post-translational modifications for ATP8A1 Gene

  • Ubiquitination at Lys594, Lys922, Lys1101, and Lys1111
  • Modification sites at PhosphoSitePlus

Domains & Families for ATP8A1 Gene

Gene Families for ATP8A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for ATP8A1 Gene

Suggested Antigen Peptide Sequences for ATP8A1 Gene

GenScript: Design optimal peptide antigens:
  • Chromaffin granule ATPase II (AT8A1_HUMAN)
  • ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1, isoform CRA_a (Q32M35_HUMAN)

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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).; EC=7.6.2.1;.
UniProtKB/Swiss-Prot EnzymeRegulation:
ATPase activity is stimulated by phosphatidylserine (PS) and minimally by phosphatidylethanolamine (PE).

Enzyme Numbers (IUBMB) for ATP8A1 Gene

Phenotypes From GWAS Catalog for ATP8A1 Gene

Gene Ontology (GO) - Molecular Function for ATP8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IEA --
GO:0005515 protein binding IPI 21914794
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity ISS --
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
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 ATP8A1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
golgi apparatus 5
extracellular 4
lysosome 4
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ATP8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA 21914794
GO:0005794 Golgi apparatus IBA,IDA 20947505
GO:0005802 trans-Golgi network IBA 21873635
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA,HDA 19946888
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

Gene Ontology (GO) - Biological Process for ATP8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport ISS --
GO:0007612 learning IEA --
GO:0015914 phospholipid transport IEA --
GO:0030335 positive regulation of cell migration IEA --
GO:0034220 ion transmembrane transport TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphatidyl serine Approved, Investigational Nutra Target 0
Water Approved Pharma 0
PE(16:0/16:0) Experimental Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0
PHOSPHATIDYLSERINE Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
PA(16:0/16:0)
  • 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)
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))
  • (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)
PA(16:0/18:2(9Z,12Z))
  • 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 ATP8A1: view

Transcripts for ATP8A1 Gene

mRNA/cDNA for ATP8A1 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP8A1

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

Expression for ATP8A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ATP8A1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP8A1

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.

Evidence on tissue expression from TISSUES for ATP8A1 Gene

  • Nervous system(4.9)
  • Blood(4.4)
  • Muscle(4.4)
  • Eye(2)
genes like me logo Genes that share expression patterns with ATP8A1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia ATP8A1 30 31
  • 99.54 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ATP8A1 31
  • 95 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ATP8A1 31
  • 93 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP8A1 30 31
  • 92.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATP8A1 30 31
  • 91.75 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atp8a1 30 17 31
  • 88.43 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp8a1 30
  • 88.18 (n)
Chicken
(Gallus gallus)
Aves ATP8A1 30 31
  • 83.45 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATP8A1 31
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp8a1 30
  • 78.86 (n)
Zebrafish
(Danio rerio)
Actinopterygii atp8a1 31
  • 78 (a)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4849 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG42321 30 31
  • 57.12 (n)
OneToMany
CG17034 32
  • 57 (a)
CG9981 32
  • 34 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011483 30
  • 24.55 (n)
Worm
(Caenorhabditis elegans)
Secernentea tat-1 30 31
  • 52.9 (n)
OneToMany
Y49E10.11 32
  • 47 (a)
T24H7.5a 32
  • 35 (a)
T24H7.5b 32
  • 35 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DRS2 31 33
  • 39 (a)
OneToMany
Rice
(Oryza sativa)
Liliopsida Os.24017 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 57 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4389 30
Species where no ortholog for ATP8A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for ATP8A1: view image

Paralogs for ATP8A1 Gene

(12) SIMAP similar genes for ATP8A1 Gene using alignment to 6 proteins:

  • AT8A1_HUMAN
  • H0Y8I6_HUMAN
  • H0YAA1_HUMAN
  • H0YAF4_HUMAN
  • H0YAJ4_HUMAN
  • Q4G1C1_HUMAN

Pseudogenes.org Pseudogenes for ATP8A1 Gene

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

Variants for ATP8A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP8A1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
771141 Likely Benign: not provided 42,422,903(-) C/A INTRON_VARIANT
rs3792687 - p.Thr673Met

Additional dbSNP identifiers (rs#s) for ATP8A1 Gene

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

Variant ID Type Subtype PubMed ID
esv1688400 CNV deletion 17803354
esv2667888 CNV deletion 23128226
esv2670930 CNV deletion 23128226
esv2727491 CNV deletion 23290073
esv2727492 CNV deletion 23290073
esv3600353 CNV loss 21293372
esv3600354 CNV loss 21293372
esv3600355 CNV loss 21293372
nsv1073322 CNV deletion 25765185
nsv1130816 CNV deletion 24896259
nsv476498 CNV novel sequence insertion 20440878
nsv509890 OTHER sequence alteration 20534489
nsv819220 CNV gain 19587683
nsv829917 CNV loss 17160897
nsv829918 CNV gain 17160897
nsv980199 CNV duplication 23825009
nsv998958 CNV gain 25217958

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)

Additional Variant Information for ATP8A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP8A1

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

Disorders for ATP8A1 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP8A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (Biochemical and biophysical research communications 1999) 2 3 4 23
  2. 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
  3. Heteromeric interactions required for abundance and subcellular localization of human CDC50 proteins and class 1 P4-ATPases. (PMID: 20947505) van der Velden LM … van de Graaf SF (The Journal of biological chemistry 2010) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PMID: 18519826) Uhl GR … Lerman C (Archives of general psychiatry 2008) 3 41

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