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    ATP8A1 ATPase phospholipid transporting 8A1 [ Homo sapiens (human) ]

    Gene ID: 10396, updated on 7-Jul-2024

    Summary

    Official Symbol
    ATP8A1provided by HGNC
    Official Full Name
    ATPase phospholipid transporting 8A1provided by HGNC
    Primary source
    HGNC:HGNC:13531
    See related
    Ensembl:ENSG00000124406 MIM:609542; AllianceGenome:HGNC:13531
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ATPIA; ATPP2; ATPASEII
    Summary
    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]
    Expression
    Broad expression in brain (RPKM 28.9), thyroid (RPKM 28.5) and 20 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ATP8A1 in Genome Data Viewer
    Location:
    4p13
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (42408373..42657105, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (42382233..42630975, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (42410390..42659122, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374428 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:42304402-42304934 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:42312337-42312842 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:42315325-42316524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:42316933-42317480 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:42317481-42318028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21516 Neighboring gene Sharpr-MPRA regulatory region 6384 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:42399553-42400442 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15393 Neighboring gene shisa family member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15394 Neighboring gene Sharpr-MPRA regulatory region 3359 Neighboring gene uncharacterized LOC124900698 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:42503719-42504219 Neighboring gene ribosomal protein S7 pseudogene 7 Neighboring gene cyclin L2 pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr4:42612853-42613397 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21521 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21522 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21523 Neighboring gene ATP8A1 divergent transcript Neighboring gene uncharacterized LOC105374430

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
    EBI GWAS Catalog
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC26327, MGC130042, MGC130043

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATPase-coupled intramembrane lipid transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ATPase-coupled intramembrane lipid transporter activity TAS
    Traceable Author Statement
    more info
     
    enables ATPase-coupled monoatomic cation transmembrane transporter activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylserine flippase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylserine flippase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylserine floppase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in aminophospholipid translocation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in aminophospholipid translocation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in learning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    involved_in phospholipid translocation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in phospholipid translocation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of phospholipid translocation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in azurophil granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in chromaffin granule membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasmic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane HDA PubMed 
    located_in organelle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of phospholipid-translocating ATPase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of phospholipid-translocating ATPase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    phospholipid-transporting ATPase IA
    Names
    ATPase II
    ATPase class I type 8A member 1
    ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
    P4-ATPase flippase complex alpha subunit ATP8A1
    aminophospholipid translocase
    chromaffin granule ATPase II
    probable phospholipid-transporting ATPase IA
    NP_001098999.1
    NP_001386953.1
    NP_001386954.1
    NP_001386955.1
    NP_001386956.1
    NP_006086.1
    XP_011511917.1
    XP_011511918.1
    XP_047305464.1
    XP_047305465.1
    XP_047305466.1
    XP_047305467.1
    XP_054204713.1
    XP_054204714.1
    XP_054204715.1
    XP_054204716.1
    XP_054204717.1
    XP_054204718.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001105529.1NP_001098999.1  phospholipid-transporting ATPase IA isoform b

      See identical proteins and their annotated locations for NP_001098999.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple changes in the coding region compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC084010, BC109317, BP232466
      Consensus CDS
      CCDS47049.1
      UniProtKB/TrEMBL
      Q59EX4
      Related
      ENSP00000264449.10, ENST00000264449.14
      Conserved Domains (6) summary
      TIGR01652
      Location:491071
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam00122
      Location:106191
      E1-E2_ATPase; E1-E2 ATPase
      pfam13246
      Location:471566
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16209
      Location:38100
      PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
      pfam16212
      Location:8121064
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:781831
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    2. NM_001400024.1NP_001386953.1  phospholipid-transporting ATPase IA isoform c

      Status: REVIEWED

      Source sequence(s)
      AC084010, AC096734, AC110788, AC139717
      UniProtKB/TrEMBL
      Q59EX4
    3. NM_001400025.1NP_001386954.1  phospholipid-transporting ATPase IA isoform d

      Status: REVIEWED

      Source sequence(s)
      AC084010, AC096734, AC110788, AC139717
      UniProtKB/TrEMBL
      Q59EX4
    4. NM_001400026.1NP_001386955.1  phospholipid-transporting ATPase IA isoform e

      Status: REVIEWED

      Source sequence(s)
      AC084010, AC096734, AC110788, AC139717
      Consensus CDS
      CCDS93493.1
      UniProtKB/TrEMBL
      Q59EX4
      Related
      ENSP00000515003.1, ENST00000700470.1
    5. NM_001400027.1NP_001386956.1  phospholipid-transporting ATPase IA isoform f

      Status: REVIEWED

      Source sequence(s)
      AC084010, AC096734, AC110788, AC139717
      UniProtKB/TrEMBL
      Q59EX4
    6. NM_006095.2NP_006086.1  phospholipid-transporting ATPase IA isoform a

      See identical proteins and their annotated locations for NP_006086.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC084010, AF067820, BP232466
      Consensus CDS
      CCDS3466.1
      UniProtKB/Swiss-Prot
      Q32M35, Q32M36, Q4W5J7, Q4W5P2, Q9Y2Q0
      UniProtKB/TrEMBL
      Q59EX4
      Related
      ENSP00000371084.5, ENST00000381668.9
      Conserved Domains (6) summary
      TIGR01652
      Location:491086
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam00122
      Location:106191
      E1-E2_ATPase; E1-E2 ATPase
      pfam13246
      Location:486581
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16209
      Location:38100
      PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
      pfam16212
      Location:8271079
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:796846
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      42408373..42657105 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449508.1XP_047305464.1  phospholipid-transporting ATPase IA isoform X3

      UniProtKB/TrEMBL
      Q59EX4
    2. XM_011513616.3XP_011511918.1  phospholipid-transporting ATPase IA isoform X2

      UniProtKB/TrEMBL
      Q59EX4
      Conserved Domains (6) summary
      TIGR01652
      Location:491093
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam00122
      Location:106191
      E1-E2_ATPase; E1-E2 ATPase
      pfam13246
      Location:486581
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16209
      Location:38100
      PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
      pfam16212
      Location:8341086
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:803853
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    3. XM_011513615.2XP_011511917.1  phospholipid-transporting ATPase IA isoform X1

      UniProtKB/TrEMBL
      Q59EX4
      Conserved Domains (6) summary
      TIGR01652
      Location:491093
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam00122
      Location:106191
      E1-E2_ATPase; E1-E2 ATPase
      pfam13246
      Location:486581
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16209
      Location:38100
      PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
      pfam16212
      Location:8341086
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:803853
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    4. XM_047449509.1XP_047305465.1  phospholipid-transporting ATPase IA isoform X4

      UniProtKB/TrEMBL
      Q59EX4
    5. XM_047449510.1XP_047305466.1  phospholipid-transporting ATPase IA isoform X5

    6. XM_047449511.1XP_047305467.1  phospholipid-transporting ATPase IA isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      42382233..42630975 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348740.1XP_054204715.1  phospholipid-transporting ATPase IA isoform X3

      UniProtKB/TrEMBL
      Q59EX4
    2. XM_054348739.1XP_054204714.1  phospholipid-transporting ATPase IA isoform X2

      UniProtKB/TrEMBL
      Q59EX4
    3. XM_054348738.1XP_054204713.1  phospholipid-transporting ATPase IA isoform X1

      UniProtKB/TrEMBL
      Q59EX4
    4. XM_054348741.1XP_054204716.1  phospholipid-transporting ATPase IA isoform X4

      UniProtKB/TrEMBL
      Q59EX4
    5. XM_054348742.1XP_054204717.1  phospholipid-transporting ATPase IA isoform X5

    6. XM_054348743.1XP_054204718.1  phospholipid-transporting ATPase IA isoform X6