Target intelligence / Profile preview

ATPase phospholipid transporting 11A (ATP11A)

Target
ATP11A
Molecular classification
Enzyme, Transporter, P4-ATPase (Flippase)
01

Overview

ATPase phospholipid transporting 11A (ATP11A) is a P4-ATPase flippase localized in the plasma membrane, catalyzing the translocation of aminophospholipids like phosphatidylserine and phosphatidylethanolamine from the extracellular to the cytoplasmic leaflet, thereby ensuring membrane lipid asymmetry essential for cellular integrity, signaling, and morphogenesis[1][2][5][6][8]. It is directly implicated in neuromuscular development and maintaining cholesterol homeostasis. Pathogenic mutations in ATP11A can disrupt substrate specificity, cause improper localization and degradation, and result in neurological and developmental diseases[4][6][8]. The protein also participates in immune signaling pathways, and its activity may be pharmacologically relevant for certain drugs. ATP11A’s biomedical importance and clinical associations with neurodevelopmental disorders position it as a potential diagnostic biomarker and therapeutic target.

Other names
ATPIHATPISKIAA1021Phospholipid-translocating ATPasePotential phospholipid-transporting ATPase IHATPase, class VI, type 11AP4-ATPase flippase complex alpha subunit ATP11A
02

Mechanism of action

Drugs may target or exploit its flippase activity to alter phospholipid distribution, affecting membrane structure and cell signaling\nLonafarnib involvement may relate to modified drug uptake via altered lipid composition

03

Biological functions

Maintenance of plasma membrane lipid asymmetry (PS/PE flipping)Regulation of cell growth and cholesterol homeostasisMuscle cell morphogenesis (myotube formation)Signal transduction via PS enrichmentInnate immune system pathway involvement
04

Disease associations

Neurological disease (e.g., hypomyelinating leukodystrophy, auditory neuropathy, developmental delay)Alterations in substrate specificity linked to neuronal disorders
05

Safety considerations

Mutations altering substrate specificity can cause disrupted membrane lipid balance, leading to neurological disease and cellular dysfunction (e.g., improper PS/PE/PC distribution)Loss of proper ATP11A activity may affect cell viability, development, and cholesterol metabolism
06

Interacting drugs

Possibly lonafarnib (a farnesyltransferase inhibitor; evidence for involvement in drug uptake)
07

Biomarkers

Mutations in ATP11A (e.g., Q84E, Y300F) are associated with disease phenotypes, potentially acting as biomarkers for neurological dysfunction or altered lipid metabolism

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