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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ATP8A1
ATPase phospholipid transporting 8A1
Chromosome 4 Β· 4p13
NCBI Gene: 10396Ensembl: ENSG00000124406.18HGNC: HGNC:13531UniProt: Q9Y2Q0
49PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
aminophospholipid translocationmembranephospholipid-translocating ATPase complexprotein bindingneurodegenerative diseaseAbruptio Placentaeeye inflammationsecondary malignant neoplasm
✦AI Summary

ATP8A1 encodes a P4-ATPase flippase that catalyzes ATP-coupled transport of aminophospholipids, particularly phosphatidylserine (PS), from the outer to inner leaflet of cellular membranes 1. The protein functions as part of a flippase complex with TMEM30A to maintain asymmetric phospholipid distribution across membranes 2. ATP8A1 localizes to multiple intracellular compartments including the trans-Golgi network (TGN), where it interacts with ARF guanine nucleotide exchange factors BIG1 and BIG2 to enhance vesicle coating machinery recruitment 2. The flippase activity regulates cell signaling pathways, including YAP activation through PS concentration in recycling endosomes 3. ATP8A1 is subject to calpain-mediated cleavage during platelet apoptosis, which disrupts membrane asymmetry and enables PS externalization 4. Dysregulated ATP8A1 expression has significant pathological implications: elevated hippocampal levels are associated with autism-spectrum behaviors and altered synaptic connectivity 5, while overexpression protects hepatocytes from ethanol-induced injury via PI3K/Akt signaling 6. Additionally, ATP8A1 expression correlates with obesity-related metabolic changes in adipose tissue 7, suggesting broader roles in metabolic regulation and disease pathogenesis.

Sources cited
1
ATP8A1 is a P4-ATPase that transports phosphatidylserine and maintains membrane phospholipid asymmetry
PMID: 30509129
2
ATP8A1 forms flippase complex with TMEM30A and interacts with BIG1/BIG2 at trans-Golgi network to regulate vesicle formation
PMID: 38879142
3
ATP8A1 concentrates phosphatidylserine in recycling endosomes to facilitate YAP activation
PMID: 37957190
4
ATP8A1 is cleaved by calpain during platelet apoptosis, enabling phosphatidylserine externalization
PMID: 30674456
5
Elevated hippocampal ATP8A1 levels are associated with autistic-like behavior and altered synaptic connectivity
PMID: 27287255
6
ATP8A1 overexpression protects hepatocytes from ethanol injury via PI3K/Akt signaling pathway
PMID: 30457983
7
ATP8A1 expression is altered by obesity in visceral adipose tissue in sex-specific manner
PMID: 35807162
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.32Weak
Abruptio PlacentaeOpen Targets
0.19Weak
eye inflammationOpen Targets
0.19Weak
secondary malignant neoplasmOpen Targets
0.19Weak
autism spectrum disorderOpen Targets
0.11Weak
hemoglobin D diseaseOpen Targets
0.05Suggestive
obesityOpen Targets
0.05Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.04Suggestive
dominant beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin E diseaseOpen Targets
0.04Suggestive
delta-beta-thalassemiaOpen Targets
0.04Suggestive
Alpha-thalassemia - myelodysplastic syndromeOpen Targets
0.04Suggestive
alpha-thalassemia-myelodysplastic syndromeOpen Targets
0.04Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.04Suggestive
hemolytic anemia due to diphosphoglycerate mutase deficiencyOpen Targets
0.03Suggestive
atypical teratoid rhabdoid tumorOpen Targets
0.03Suggestive
Blackfan-Diamond anemiaOpen Targets
0.03Suggestive
hemoglobin H diseaseOpen Targets
0.03Suggestive
Pathogenic Variants1
NM_006095.2(ATP8A1):c.2147T>C (p.Leu716Pro)Pathogenic
Hypercholesterolemia, familial, 1
β˜†β˜†β˜†β˜†2022β†’ Residue 716
View on ClinVar β†—
Related Genes
CDC50AProtein interaction100%ATP10BProtein interaction99%CDC50BProtein interaction92%GRXCR1Protein interaction80%ATP10AProtein interaction78%ATP10DProtein interaction78%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
51%
Ovary
19%
Heart
16%
Lung
12%
Liver
1%
Gene Interaction Network
Click a node to explore
ATP8A1CDC50AATP10BCDC50BGRXCR1ATP10AATP10D
PROTEIN STRUCTURE
Preparing viewer…
PDB6K7L Β· 2.83 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.66LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.53 [0.43–0.66]
RankingsWhere ATP8A1 stands among ~20K protein-coding genes
  • #8,912of 20,598
    Most Researched49
  • #5,102of 5,498
    Most Pathogenic Variants1
  • #4,841of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedATP8A1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Exosome circATP8A1 induces macrophage M2 polarization by regulating the miR-1-3p/STAT6 axis to promote gastric cancer progression.
PMID: 38459596
Mol Cancer Β· 2024
1.00
2
The lipid flippase ATP8A1 regulates the recruitment of ARF effectors to the trans-Golgi Network.
PMID: 38879142
Arch Biochem Biophys Β· 2024
0.90
3
Substrates of P4-ATPases: beyond aminophospholipids (phosphatidylserine and phosphatidylethanolamine).
PMID: 30509129
FASEB J Β· 2019
0.80
4
PPP1R12A is a recycling endosomal phosphatase that facilitates YAP activation.
PMID: 37957190
Sci Rep Β· 2023
0.70
5
Over-Expression of ATPase II Alleviates Ethanol-Induced Hepatocyte Injury in HL-7702 Cells.
PMID: 30457983
Med Sci Monit Β· 2018
0.60