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

ATP8A1 Gene

protein-coding   GIFtS: 60
GCID: GC04M042410

ATPase, Aminophospholipid Transporter (APLT), Class I, Type...

(Previous names: ATPase, aminophospholipid transporter (APLT), Class I, type...)
  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)
About This Section

Aliases
ATPase, Aminophospholipid Transporter (APLT), Class I, Type 8A, Member
11 2
     ATPP22
Chromaffin Granule ATPase II2 3     Aminophospholipid Translocase2
ATPIA2 3     ATPase II2
ATPase Class I Type 8A Member 12 3     Probable Phospholipid-Transporting ATPase IA2
EC 3.6.3.13 8     EC 3.6.38
ATPASEII2     

External Ids:    HGNC: 135311   Entrez Gene: 103962   Ensembl: ENSG000001244067   OMIM: 6095425   UniProtKB: Q9Y2Q03   

Export aliases for ATP8A1 gene to outside databases

Previous GC identifers: GC04M042486 GC04M042698 GC04M042263 GC04M042330 GC04M042325 GC04M042255 GC04M042105 GC04M041732


(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 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, aminophospholipid transporter (APLT), class I, type 8A, member 1) is a protein-coding gene. Diseases associated with ATP8A1 include intrahepatic cholestasis, and cholestasis, and among its related super-pathways are Ion channel transport and SLC-mediated transmembrane transport. GO annotations related to this gene include phospholipid-translocating ATPase activity and magnesium ion binding. An important paralog of this gene is ATP11A.

UniProtKB/Swiss-Prot: AT8A1_HUMAN, Q9Y2Q0
Function: May play a role in the transport of aminophospholipids from the outer to the inner leaflet of various
membranes and the maintenance of asymmetric distribution of phospholipids, mainly in secretory vesicles




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_006238.11  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP8A1 gene promoter:
         Egr-3   AML1a   AP-4   C/EBPalpha   Evi-1   MEF-2A   HSF2   Cart-1   aMEF-2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP8A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP8A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP8A1


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

Entrez Gene cytogenetic band: 4p13   Ensembl cytogenetic band:  4p13   HGNC cytogenetic band: 4p13

ATP8A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP8A1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M042410:  view genomic region     (about GC identifiers)

Start:
42,410,390 bp from pter      End:
42,659,122 bp from pter
Size:
248,733 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AT8A1_HUMAN, Q9Y2Q0 (See protein sequence)
Recommended Name: Probable phospholipid-transporting ATPase IA  
Size: 1164 amino acids; 131369 Da
Subunit: Interacts with TMEM30A, but not with TMEM30B
Subcellular location: Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane; Multi-pass membrane
protein (By similarity). Cytoplasmic granule. Cell membrane. Endoplasmic reticulum. Note=Exit from the
endoplasmic reticulum requires the presence of TMEM30A, but not TMEM30B. In the presence of TMEM30A,
predominantly located in cytoplasmic punctate structures
Sequence caution: Sequence=AAI09318.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA77248.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q32M35 Q32M36 Q4W5J7 Q4W5P2
Alternative splicing: 3 isoforms:  Q9Y2Q0-1   Q9Y2Q0-2   Q9Y2Q0-3   

Explore the universe of human proteins at neXtProt for ATP8A1: NX_Q9Y2Q0

Explore proteomics data for ATP8A1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y2Q0

  • 4/32 DME Specific Peptides for ATP8A1 (Q9Y2Q0) (see all 32)
     LAIGDGA  NDVSMIQ  TLAIGDG  DGETNLK 

    ATP8A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP8A1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001098999.1  NP_006086.1  

    ENSEMBL proteins: 
     ENSP00000426495   ENSP00000371084   ENSP00000264449   ENSP00000421164   ENSP00000426935  
     ENSP00000427295   ENSP00000426636  
    Reactome Protein details: Q9Y2Q0
    Human Recombinant Protein Products for ATP8A1: 
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    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:0005886plasma membrane TAS--
    GO:0016021integral to membrane NAS--
    GO:0042584chromaffin granule membrane IEA--

    ATP8A1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PATP: ATPases / P-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: ATP8A1 
    Phospholipid-transporting ATPase

    5/6 InterPro protein domains (see all 6):
     IPR023299 ATPase_P-typ_cyto_domN
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR023214 HAD-like_dom
     IPR006539 ATPase_P-typ_Plipid-transp
     IPR001757 Cation_transp_P_typ_ATPase

    Graphical View of Domain Structure for InterPro Entry Q9Y2Q0

    ProtoNet protein and cluster: Q9Y2Q0

    2 Blocks protein domains:
    IPB001757 ATPase
    IPB008250 E1-E2 ATPase-associated region


    UniProtKB/Swiss-Prot: AT8A1_HUMAN, Q9Y2Q0
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily


    ATP8A1 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AT8A1_HUMAN, Q9Y2Q0
    Function: May play a role in the transport of aminophospholipids from the outer to the inner leaflet of various
    membranes and the maintenance of asymmetric distribution of phospholipids, mainly in secretory vesicles
    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): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0000287magnesium ion binding IEA--
    GO:0004012phospholipid-translocating ATPase activity IEA--
    GO:0005515protein binding IPI--
    GO:0005524ATP binding NAS--
         
    ATP8A1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ATP8A1:
     Decreased cilium length  Decreased cilium length after  

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Atp8a1):
     behavior/neurological  cardiovascular system  growth/size  hematopoietic system  homeostasis/metabolism 
     normal  pigmentation  vision/eye 

    ATP8A1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ATP8A1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATP8A1 
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    SwitchGear 3'UTR luciferase reporter plasmidATP8A1 3' UTR sequence
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ATP8A1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.49
    Ion transport by P-type ATPases0.32
    2SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    3Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q
    Peptide GPCRs0.46

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ATP8A1
        Peptide GPCRs

    3        Reactome Pathways for ATP8A1
        Transmembrane transport of small molecules
    Ion channel transport
    Ion transport by P-type ATPases



    ATP8A1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP8A1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/73 Interacting proteins for ATP8A1 (Q9Y2Q03 ENSP000003710844) via UniProtKB, MINT, STRING, and/or I2D (see all 73)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    TMEM30BQ3MIR43, ENSP000003479304I2D: score=2 STRING: ENSP00000347930
    ATP10DQ9P2413I2D: score=4 
    CDC34P494273I2D: score=3 
    DIAPH1O606103I2D: score=3 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006812cation transport ----
    GO:0015914phospholipid transport ----
    GO:0015917aminophospholipid transport NAS--
    GO:0034220ion transmembrane transport TAS--
    GO:0045332phospholipid translocation NAS--

    ATP8A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ATP8A1 for compounds           About GeneDecksing

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    10/2729 HMDB Compounds for ATP8A1 (see all 2729)    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)----

    1 DrugBank Compound for ATP8A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Phosphatidylserine3-O-sn-Phosphatidyl-L-serine (see all 3)8002-43-5target--15971000 12697835 16618126 16179347

    10/24 Novoseek inferred chemical compound relationships for ATP8A1 gene (see all 24)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylserine 90.7 96 9334182 (7), 9184159 (4), 10497162 (3), 16179347 (3) (see all 47)
    pyridyldithioethylamine 86.5 3 11032418 (1), 2065068 (1)
    phosphatidylethanolamine 81.2 18 11487015 (1), 2193828 (1), 8325999 (1), 8119984 (1) (see all 14)
    phospholipid 79.1 24 19549270 (2), 1550843 (1), 1333195 (1), 11487015 (1) (see all 21)
    phosphatidylcholine 73.4 13 8388728 (1), 8325999 (1), 8119984 (1), 1314669 (1) (see all 10)
    n-ethylmaleimide 65.6 9 8907713 (1), 9184159 (1), 9724927 (1), 15049708 (1) (see all 5)
    merocyanine 540 57 2 1550843 (1), 12442312 (1)
    diamide 53 1 9184159 (1)
    lipid 53 14 10087508 (2), 2193828 (2), 8388728 (1), 1286199 (1) (see all 9)
    atp 50.3 12 8907713 (2), 1550843 (1), 12023035 (1), 8119984 (1) (see all 10)

    Search CenterWatch for drugs/clinical trials and news about ATP8A1 / AT8A1

    (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,
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    About This Section

    REFSEQ mRNAs for ATP8A1 gene (2 alternative transcripts): 
    NM_001105529.1  NM_006095.2  

    Unigene Cluster for ATP8A1:

    ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
    Hs.435052  [show with all ESTs]
    Unigene Representative Sequence: NM_006095
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000514372(uc003gwq.2) ENST00000381668(uc003gwr.2 uc011byz.1)
    ENST00000264449(uc003gws.2) ENST00000511858 ENST00000506602 ENST00000515872
    ENST00000506713 ENST00000504510 ENST00000504024 ENST00000510289
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    Additional mRNA sequence: 

    AB013452.1 AB209687.1 AF035315.1 AF067820.1 AK027252.1 BC020943.1 BC109317.1 BC109318.1 
    BX648675.1 

    6 DOTS entries:

    DT.97841280  DT.414306  DT.106845  DT.91737350  DT.91966032  DT.95370385 

    24/141 AceView cDNA sequences (see all 141):

    AA278583 AW043800 AI718554 AA884379 AL708118 BE673599 CD723799 BF001350 
    AA365459 CK300684 BX089438 AI708205 AI218581 AI648519 NM_006095 Z40030 
    AF067820 AI522236 AI424825 T16783 T61475 BQ716091 AW090647 CF147443 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ATP8A1 (see all 7)    About this scheme

    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:                                                                                                                                                            

    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:                                                                                                                              


    ECgene alternative splicing isoforms for ATP8A1

    (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

    ATP8A1 expression in normal human tissues (normalized intensities)      ATP8A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ATP8A1 Expression
    About this image


    ATP8A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/14 selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Midbrain tegmentum
             ganglion/cranial/facial VII   
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             T-Cytotoxic Cells Thymus
             Thymus
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             visceral organ/lung/right lung   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             sensory organ/ear/inner ear   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Proerythroblasts Hematopoietic Bone Marrow

    See ATP8A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP8A1

    SOURCE GeneReport for Unigene cluster: Hs.435052

    UniProtKB/Swiss-Prot: AT8A1_HUMAN, Q9Y2Q0
    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

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    (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 ATP8A1 gene from 9/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp8a11 , 5 ATPase, aminophospholipid transporter (APLT), class more1, 5 89.26(n)1
    98.11(a)1
      5 (36.15 cM)5
    119801  NM_001038999.11  NP_001034088.11 
     676181405 
    chicken
    (Gallus gallus)
    Aves ATP8A11 ATPase, aminophospholipid transporter (APLT), class more 84.27(n)
    93.48(a)
      422776  XM_420729.3  XP_420729.2 
    lizard
    (Anolis carolinensis)
    Reptilia ATP8A16
    Uncharacterized protein
    90(a)
    1 ↔ 1
    5(101305132-101416264)
    African clawed frog
    (Xenopus laevis)
    Amphibia AW159233.12   -- 79.3(n)    AW159233.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp8a16
    ATPase, aminophospholipid transporter (APLT), clas...
    78(a)
    1 ↔ 1
    14(47896354-47929320)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG170343
    CG423211
    P-type ATPase3
    CG423211
    57(a)
    (best of 2)3
    57.12(n)1
    58.26(a)1
      364881  NM_170625.31  NP_725292.21 
    worm
    (Caenorhabditis elegans)
    Secernentea Y49E10.113
    tat-11
    P-type ATPase3
    Protein TAT-11
    47(a)
    (best of 3)3
    52.93(n)1
    49.54(a)1
      III(12471007-12492308)3
    1766661  NM_001027723.11  NP_001022894.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DRS2(YAL026C)4 Aminophospholipid translocase (flippase) that maintains more   --   1(99697-95630) 851207  NP_009376.1 
    rice
    (Oryza sativa)
    Liliopsida Os.240172 Oryza sativa (japonica cultivar-group) cDNA clone0 more 74.33(n)    NM_188912.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP8A1 gene
    ATP11A2  ATP11C2  ATP11B2  ATP8A22  ATP8B42  ATP8B22  
    12 SIMAP similar genes for ATP8A1 using alignment to 6 protein entries:     AT8A1_HUMAN (see all proteins):
    ATP8A2    DKFZp779H1459    ATP11B    ATP9B    ATP8B4    ATP8B2
    ATP8B1    ATP11A    ATP8B3    ATP11C    ATP9A    ATP10D

    ATP8A1 for paralogs           About GeneDecksing



    (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) 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

    10/5149 SNPs in ATP8A1 are shown (see all 5149)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs666135291,2
    C--42387843(+) TTTTT-/G/TG  
            
    ATGTA
    2 -- int12NA 4
    rs1891675911,2
    C--42410156(+) TTTTCA/C/GTACTG 2 -- ds50010--------
    rs1931204741,2
    --42410192(+) TAAAAA/CATTCT 2 -- ds50010--------
    rs1501948861,2
    --42410225(+) CTTACC/TAAACT 2 -- ds50010--------
    rs68152921,2
    C,F,A,H--42410264(+) ATTTAG/ACTGGA 2 -- ds500110Minor allele frequency- A:0.23NS EA NA WA 782
    rs1839119741,2
    --42410456(+) ATTTGC/TAGTTT 2 -- ut310--------
    rs1876217521,2
    --42410588(+) TACTAA/TAACCA 2 -- ut310--------
    rs1914203581,2
    --42410694(+) TAACGC/TAAAAC 2 -- ut310--------
    rs1468020751,2
    C--42410848(+) ACATAA/CAAATA 2 -- ut310--------
    rs119402431,2
    C,F,A,H--42410946(+) TCTAGT/CTTTCC 2 -- ut3124Minor allele frequency- C:0.18NS EA NA WA CSA 2352

    HapMap Linkage Disequilibrium report for ATP8A1 (42410390 - 42659122 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for ATP8A1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2727491CNV Deletion23290073
    esv2727492CNV Deletion23290073
    esv1688400CNV Deletion17803354
    esv2667888CNV Deletion23128226
    esv2670930CNV Deletion23128226
    nsv509890CNV Loss20534489
    nsv829917CNV Loss17160897
    nsv829918CNV Gain17160897
    nsv819220CNV Gain19587683

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609542    OMIM disorders: --

    6 diseases for ATP8A1:    About MalaCards
    intrahepatic cholestasis    cholestasis    smallpox    epididymitis
    liver disease    alcoholism


    ATP8A1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for ATP8A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    stomatocytosis 65.2 1 1732016 (1)
    inflammation 0 1 17229723 (1)

    Genetic Association Database (GAD): ATP8A1
    Human Genome Epidemiology (HuGE) Navigator: ATP8A1 (4 documents)

    Export disorders for ATP8A1 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)
    About This Section

    PubMed articles for ATP8A1 gene, integrated from 9 sources (see all 129):
    (articles sorted by number of sources associating them with ATP8A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 10198212)1, 2, 3, 9 Mouro I.... Colin Y. (1999)
    2. ATP9B, a P4-ATPase (a putative aminophospholipid translocase), localizes to the trans-Golgi network in a CDC50 protein-independent manner. (PubMed id 21914794)1, 2 Takatsu H.... Shin H.W. (2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (2008)
    5. Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs. (PubMed id 9548971)1, 3 Halleck M.S....Schlegel R.A. (1998)
    6. Fas-, caspase 8-, and caspase 3-dependent signaling regulates the activity of the aminophospholipid translocase and phosphatidylserine externalization in human erythrocytes. (PubMed id 16179347)7, 9 Mandal D....Basu J. (2005)
    7. Nitrosative stress inhibits the aminophospholipid translocase resulting in phosphatidylserine externalization and macrophage engulfment: implications for the resolution of inflammation. (PubMed id 17229723)1, 9 Tyurina Y.Y....Kagan V.E. (2007)
    8. Activated scramblase and inhibited aminophospholipid translocase cause phosphatidylserine exposure in a distinct platelet fraction. (PubMed id 15971000)7, 9 Wolfs J.L....Bevers E.M. (2005)
    9. Mechanical constraint imposed on plasma membrane through transverse phospholipid imbalance induces reversible actin polymerization via phosphoinositide 3-kinase activation. (PubMed id 12697835)7, 9 Bettache N....Bienvenue A. (2003)
    10. The type 4 subfamily of P-type ATPases, putative aminophospholipid translocases with a role in human disease. (PubMed id 15919184)1, 9 Paulusma C.C. and Oude Elferink R.P. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 10396 HGNC: 13531 AceView: ATP8A1 Ensembl:ENSG00000124406 euGenes: HUgn10396
    ECgene: ATP8A1 H-InvDB: ATP8A1

    (According to HUGE)
    About This Section
      --

    (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 ATP8A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATP8A1 gene:
    Search GeneIP for patents involving ATP8A1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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