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ATP8A1 Gene

protein-coding   GIFtS: 62
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 cockayne syndrome, and intrahepatic cholestasis. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NT_006238.12  NC_018915.2  
Regulatory elements:
   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 Chromatin IP Primers for ATP8A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
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: 

  • Ubiquitination2 at Lys594, Lys922, Lys1101, Lys1111
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATP8A1 (Q9Y2Q0) (see all 32)
     LAIGDGA  NDVSMIQ  TLAIGDG  DGETNLK 


    See ATP8A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000426495   ENSP00000371084   ENSP00000264449   ENSP00000421164   ENSP00000426935  
     ENSP00000427295   ENSP00000426636  
    Reactome Protein details: Q9Y2Q0

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

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

    Selected InterPro protein domains (see all 6):
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR023214 HAD-like_dom
     IPR006539 ATPase_P-typ_Plipid-transp
     IPR001757 Cation_transp_P_typ_ATPase
     IPR018303 ATPase_P-typ_P_site

    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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 IEA--
         
    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/body  hematopoietic system  homeostasis/metabolism 
     normal  pigmentation  vision/eye 

    ATP8A1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP8A1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATP8A1
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    miRNA
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    miRTarBase miRNAs that target ATP8A1:
    hsa-mir-181a-5p (MIRT025194), hsa-mir-128-3p (MIRT022068), hsa-mir-335-5p (MIRT018577)

    Block miRNA regulation of human, mouse, rat ATP8A1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATP8A1 (see all 69):
    hsa-miR-520f hsa-miR-200a hsa-miR-128 hsa-miR-30d hsa-miR-30a hsa-miR-761 hsa-miR-4324 hsa-miR-4297
    SwitchGear 3'UTR luciferase reporter plasmidATP8A1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ATP8A1

    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP8A1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AT8A1_HUMAN, Q9Y2Q0: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane5
    peroxisome2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA--
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0042584chromaffin granule membrane IEA--

    ATP8A1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ATP8A1 About    
    See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.58
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    3Neuropeptides signaling through G protein alpha i and G protein alpha q
    Peptide GPCRs0.46
    4Ion transport by P-type ATPases
    Ion transport by P-type ATPases

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ATP8A1
        Peptide GPCRs

    1 Reactome Pathway for ATP8A1
        Ion transport by P-type ATPases



    ATP8A1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP8A1
    Interactions:

        Search GeneGlobe Interaction Network for ATP8A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ATP8A1 (Q9Y2Q03 ENSP000003710844) via UniProtKB, MINT, STRING, and/or I2D (see all 119)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP10DQ9P2413, ENSP000002738594I2D: score=4 STRING: ENSP00000273859
    SSRP1Q089453, ENSP000002784124I2D: score=3 STRING: ENSP00000278412
    ARFGEF1Q9Y6D63, ENSP000002622154I2D: score=2 STRING: ENSP00000262215
    AP3D1O146173, ENSP000003440554I2D: score=1 STRING: ENSP00000344055
    ARF1P840773, ENSP000002721024I2D: score=1 STRING: ENSP00000272102
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006812cation transport ----
    GO:0015914phospholipid transport ----
    GO:0015917aminophospholipid transport ----
    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATP8A1 (AT8A1)

    Selected 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

    Selected 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)



    ATP8A1 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ATP8A1 (see all 69):
    hsa-miR-520f hsa-miR-200a hsa-miR-128 hsa-miR-30d hsa-miR-30a hsa-miR-761 hsa-miR-4324 hsa-miR-4297
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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 

    Selected AceView cDNA sequences (see all 141):

    BQ716957 AI367652 BI494903 BQ478171 AA283065 CD722888 AA767088 BU165431 
    AA767040 AW014224 AI521876 AA814737 AW043800 AI718554 AA884379 AL708118 
    BE673599 CD723799 BF001350 AA365459 CK300684 BX089438 AI708205 AI218581 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATP8A1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 6) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             Proerythroblasts Hematopoietic Bone Marrow
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             T-Cytotoxic Cells Thymus
             Thymus
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
     
     Lung (Respiratory System)
             Alveolar type II cells
     
     Neural Tube (Nervous System)
             Metencephalon
    ATP8A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP8A1 Protein Expression

    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP8A1 gene from Selected 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 88.43(n)1
    97.16(a)1
      5 (36.15 cM)5
    119801  NM_001284345.11  NP_001271274.11 
     676181405 
    chicken
    (Gallus gallus)
    Aves ATP8A11 ATPase, aminophospholipid transporter (APLT), class more 83.45(n)
    92.44(a)
      422776  XM_004936072.1  XP_004936129.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP8A16
    ATPase, aminophospholipid transporter (APLT), clas...
    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) ENSDARG00000063001
    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_001144183.21  NP_001137655.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y49E10.113
    tat-11
    P-type ATPase3
    tat-11
    47(a)
    (best of 3)3
    52.9(n)1
    49.54(a)1
      III(12471007-12492308)3
    1766661  NM_001027723.21  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)
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    Paralogs for ATP8A1 gene
    ATP11A2  ATP8B12  ATP11B2  ATP11C2  ATP8B42  ATP8A22  ATP8B22  ATP8B32  
    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATP8A1 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP8A1
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP8A1

    (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.)
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    OMIM gene information: 609542    OMIM disorders: --

    8 diseases for ATP8A1:    
    About MalaCards
    cockayne syndrome    intrahepatic cholestasis    smallpox    cholestasis
    epididymitis    labyrinthitis    liver disease    malaria


    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)
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    PubMed articles for ATP8A1 gene, integrated from 10 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. (Biochem. Biophys. Res. Commun. 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. (J. Biol. Chem. 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. (Mol. Med. 2010)
    4. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (Arch. Gen. Psychiatry 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. (Genome Res. 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. (J. Biol. Chem. 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. (J. Biol. Chem. 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. (Cell. Mol. Life Sci. 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. (J. Cell. Sci. 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. (Biochim. Biophys. Acta 2005)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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