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

Gene ID: 10396, updated on 6-Jul-2026
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
all
Try the new Gene page
Try the new Transcripts and proteins table
See ATP8A1 in Genome Data Viewer
Location:
4p13
Exon count:
39
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (42408373..42657105, complement)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (42382233..42630975, complement)
RS_2024_09 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

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Exosome circATP8A1 induces macrophage M2 polarization by regulating the miR-1-3p/STAT6 axis to promote gastric cancer progression.
    Title: Exosome circATP8A1 induces macrophage M2 polarization by regulating the miR-1-3p/STAT6 axis to promote gastric cancer progression.
  2. AP-3-dependent targeting of flippase ATP8A1 to lamellar bodies suppresses activation of YAP in alveolar epithelial type 2 cells.
    Title: AP-3-dependent targeting of flippase ATP8A1 to lamellar bodies suppresses activation of YAP in alveolar epithelial type 2 cells.
  3. cryo-electron microscopy structure of six intermediates of the human flippase ATP8A1 bound to the partner protein CDC50a; ATP binding and autophosphorylation of ATP8A1 drive a cycle of conformations in which lipids bind differently, powering translocation.
    Title: Cryo-EM structures capture the transport cycle of the P4-ATPase flippase.
  4. ATP8A1 is cleaved by the cysteine protease calpain during apoptosis, and the cleavage is prevented indirectly by caspase inhibition, involving blockage of calcium influx into platelets and subsequent calpain activation.
    Title: Calpain cleaves phospholipid flippase ATP8A1 during apoptosis in platelets.
  5. Single-nucleotide polymorphism, rs17448506, located in ATP8A1 intron, reached the significance threshold for interaction with tobacco smoke expose and bronchial hyperresponsiveness (p=10-5).
    Title: Interactive effect between ATPase-related genes and early-life tobacco smoke exposure on bronchial hyper-responsiveness detected in asthma-ascertained families.
  6. Over-expression of ATP8A1 alleviated ethanol-induced hepatocyte injury. Moreover, the PI3K/Akt signaling pathway appears to participate in inhibition of ethanol-induced hepatocyte apoptosis.
    Title: Over-Expression of ATPase II Alleviates Ethanol-Induced Hepatocyte Injury in HL-7702 Cells.
  7. A pronounced induction of the flippase Atp8a1 was observed in post-mortem tissue homogenates from the hippocampus and temporal lobe of juvenile autistic subjects compared to age-matched controls.
    Title: Aberrant hippocampal Atp8a1 levels are associated with altered synaptic strength, electrical activity, and autistic-like behavior.
  8. Knockdown of ATP8A1 (a recycling endosome phosphatidlyserine-flippase) suppresses nuclear localization of YAP and YAP-dependent transcription. ATP8A1 knockdown increases the phosphorylated (activated) form of Lats1 that phosphorylates and inactivates YAP.
    Title: Endosomal phosphatidylserine is critical for the YAP signalling pathway in proliferating cells.
  9. The increased level of intracellular ATP8A1 protein attenuated the inhibitor role of miR-140-3p in the growth and mobility of NSCLC cell.
    Title: MiR-140-3p suppressed cell growth and invasion by downregulating the expression of ATP8A1 in non-small cell lung cancer.
  10. Depletion of ATP8A1 impaired the asymmetric transbilayer distribution of phosphatidylserine in recycling endosomes, dissociated EHD1 from recycling endosomes, and generated aberrant endosomal tubules that appear resistant to fission.
    Title: Transport through recycling endosomes requires EHD1 recruitment by a phosphatidylserine translocase.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Review eQTL and phenotype association data in this region using PheGenI

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

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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 carrier activity EXP
Inferred from Experiment
more info
 PubMed 
enables ATPase-coupled intramembrane lipid carrier activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ATPase-coupled intramembrane lipid carrier activity IEA
Inferred from Electronic Annotation
more info
  
enables ATPase-coupled intramembrane lipid carrier 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 nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables phosphatidylserine flippase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylserine flippase activity IEA
Inferred from Electronic Annotation
more info
  
enables phosphatidylserine flippase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables phosphatidylserine floppase activity EXP
Inferred from Experiment
more info
 PubMed 
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 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 phospholipid transport 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 EXP
Inferred from Experiment
more info
 PubMed 
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
located_in azurophil granule membrane TAS
Traceable Author Statement
more info
  
located_in bounding membrane of organelle IEA
Inferred from Electronic Annotation
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 cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
  
located_in endomembrane system IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum EXP
Inferred from Experiment
more info
 PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular exosome HDA PubMed 
located_in membrane HDA PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
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 
located_in plasma membrane EXP
Inferred from Experiment
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 IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in secretory vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in specific granule membrane TAS
Traceable Author Statement
more info
  
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
  
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

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_001105529.1 → NP_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:49 → 1071
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:106 → 191
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:471 → 566
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:38 → 100
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:812 → 1064
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:781 → 831
    HAD_like; Haloacid Dehalogenase-like Hydrolases

  2. NM_001400024.1 → NP_001386953.1  phospholipid-transporting ATPase IA isoform c

    Status: REVIEWED

    Source sequence(s)
    AC084010, AC096734, AC110788, AC139717
    UniProtKB/TrEMBL
    A0ACI8R1E8, Q59EX4
    Related
    ENSP00000575812.1, ENST00000905753.1

  3. NM_001400025.1 → NP_001386954.1  phospholipid-transporting ATPase IA isoform d

    Status: REVIEWED

    Source sequence(s)
    AC084010, AC096734, AC110788, AC139717
    UniProtKB/TrEMBL
    A0ACI8R1E1, Q59EX4
    Related
    ENSP00000575811.1, ENST00000905752.1

  4. NM_001400026.1 → NP_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_001400027.1 → NP_001386956.1  phospholipid-transporting ATPase IA isoform f

    Status: REVIEWED

    Source sequence(s)
    AC084010, AC096734, AC110788, AC139717
    UniProtKB/TrEMBL
    Q59EX4

  6. NM_006095.2 → NP_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:49 → 1086
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:106 → 191
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:486 → 581
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:38 → 100
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:827 → 1079
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:796 → 846
    HAD_like; Haloacid Dehalogenase-like Hydrolases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

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_047449508.1 → XP_047305464.1  phospholipid-transporting ATPase IA isoform X3

    UniProtKB/TrEMBL
    Q59EX4

  2. XM_011513616.3 → XP_011511918.1  phospholipid-transporting ATPase IA isoform X2

    UniProtKB/TrEMBL
    Q59EX4
    Conserved Domains (6) summary
    TIGR01652
    Location:49 → 1093
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:106 → 191
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:486 → 581
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:38 → 100
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:834 → 1086
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:803 → 853
    HAD_like; Haloacid Dehalogenase-like Hydrolases

  3. XM_011513615.2 → XP_011511917.1  phospholipid-transporting ATPase IA isoform X1

    UniProtKB/TrEMBL
    Q59EX4
    Conserved Domains (6) summary
    TIGR01652
    Location:49 → 1093
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:106 → 191
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:486 → 581
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:38 → 100
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:834 → 1086
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:803 → 853
    HAD_like; Haloacid Dehalogenase-like Hydrolases

  4. XM_047449509.1 → XP_047305465.1  phospholipid-transporting ATPase IA isoform X4

    UniProtKB/TrEMBL
    Q59EX4

  5. XM_047449510.1 → XP_047305466.1  phospholipid-transporting ATPase IA isoform X5

  6. XM_047449511.1 → XP_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_054348740.1 → XP_054204715.1  phospholipid-transporting ATPase IA isoform X3

    UniProtKB/TrEMBL
    Q59EX4

  2. XM_054348739.1 → XP_054204714.1  phospholipid-transporting ATPase IA isoform X2

    UniProtKB/TrEMBL
    Q59EX4

  3. XM_054348738.1 → XP_054204713.1  phospholipid-transporting ATPase IA isoform X1

    UniProtKB/TrEMBL
    Q59EX4

  4. XM_054348741.1 → XP_054204716.1  phospholipid-transporting ATPase IA isoform X4

    UniProtKB/TrEMBL
    Q59EX4

  5. XM_054348742.1 → XP_054204717.1  phospholipid-transporting ATPase IA isoform X5

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y2Q0.1 GenPept UniProtKB/Swiss-Prot:Q9Y2Q0

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