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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ATP10D
ATPase phospholipid transporting 10D (putative)
Chromosome 4 · 4p12
NCBI Gene: 57205Ensembl: ENSG00000145246.15HGNC: HGNC:13549UniProt: Q9P241
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membranephospholipid-translocating ATPase complexglycosylceramide flippase activityprotein bindingpreeclampsiaParkinson diseaseparasitic infectionnervous system benign neoplasm
✦AI Summary

ATP10D is a P4-type ATPase that functions as a glucosylceramide (GlcCer) flippase, catalyzing ATP-dependent transport of GlcCer from the outer to inner leaflet of the plasma membrane 1. The protein contains conserved structural motifs in transmembrane domains, particularly a critical glutamine residue in TM4, that determine substrate specificity for GlcCer recognition 2. ATP10D localizes to the plasma membrane through N-terminal trafficking signals and plays a primary role in regulating plasma GlcCer homeostasis 34. Functionally, ATP10D expression reduces cellular hexosylceramide levels and facilitates GlcCer metabolism, with potential therapeutic relevance to Gaucher disease, a lysosomal storage disorder characterized by GlcCer accumulation 1. Genome-wide association studies identified ATP10D variants (rs2351791) associated with altered serum lipid profiles and cardiovascular disease risk, including coronary and intracranial atherosclerosis in elderly populations 52. Transgenic ATP10D expression in mice reduced high-fat diet-induced obesity by 25%, improved insulin sensitivity with 69% lower insulin levels, and decreased triacylglycerol levels, partly through reduced hepatic stearoyl-CoA desaturase 1 expression 6. However, ATP10D is not involved in Parkinson's disease pathogenesis despite associations with plasma GlcCer levels 4.

Sources cited
1
ATP10D flips GlcCer across the plasma membrane and its expression reduces cellular hexosylceramide levels in normal and Gaucher disease fibroblasts
PMID: 38280458
2
ATP10D is part of a conserved P4-ATPase clade that transports GlcCer; conserved glutamine in TM4 is essential for substrate selection; ATP10D variants associate with diabetes, obesity, myocardial infarction, atherosclerosis, and elevated plasma GlcCer
PMID: 30530492
3
ATP10D is the main regulator of plasma GlcCer levels but is not involved in Parkinson's disease pathogenesis
PMID: 40022584
4
ATP10D rs2351791 SNP variant associates with coronary and intracranial atherosclerosis indices and HDL cholesterol levels in elderly Japanese population
PMID: 24125428
5
ATP10D transgenic mice show 25% reduced weight gain on high-fat diet, 69% lower insulin levels, improved insulin sensitivity, and decreased hexosylceramide species
PMID: 28542499
6
ATP10D localizes to the plasma membrane through N-terminal region targeting signals
PMID: 32614659
Disease Associationsⓘ20
preeclampsiaOpen Targets
0.36Weak
Parkinson diseaseOpen Targets
0.32Weak
parasitic infectionOpen Targets
0.31Weak
nervous system benign neoplasmOpen Targets
0.31Weak
lysosomal storage diseaseOpen Targets
0.30Weak
neurodegenerative diseaseOpen Targets
0.30Weak
Alzheimer diseaseOpen Targets
0.30Weak
multiple sclerosisOpen Targets
0.30Weak
skull disorderOpen Targets
0.25Weak
lagophthalmosOpen Targets
0.24Weak
vascular diseaseOpen Targets
0.24Weak
HydrocephalusOpen Targets
0.12Weak
Abruptio PlacentaeOpen Targets
0.11Weak
duodenal ulcerOpen Targets
0.10Weak
liver diseaseOpen Targets
0.09Suggestive
risk-taking behaviourOpen Targets
0.08Suggestive
sleep apneaOpen Targets
0.08Suggestive
hemolytic anemiaOpen Targets
0.07Suggestive
hypopituitarismOpen Targets
0.06Suggestive
frozen shoulderOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDC50AProtein interaction99%ATP10AProtein interaction84%ATP8A1Protein interaction78%ATP10BProtein interaction77%ATP11AProtein interaction72%ATP8B1Protein interaction70%
Tissue Expression6 tissues
Ovary
100%
Lung
90%
Heart
85%
Liver
48%
Bone Marrow
25%
Brain
23%
Gene Interaction Network
Click a node to explore
ATP10DCDC50AATP10AATP8A1ATP10BATP11AATP8B1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9P241
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.71LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.59 [0.49–0.71]
RankingsWhere ATP10D stands among ~20K protein-coding genes
  • #13,374of 20,598
    Most Researched23
  • #5,415of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedATP10D
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Glucosylceramide flippases contribute to cellular glucosylceramide homeostasis.
PMID: 38280458
J Lipid Res · 2024
1.00
2
Yeast and human P4-ATPases transport glycosphingolipids using conserved structural motifs.
PMID: 30530492
J Biol Chem · 2019
0.90
3
Plasma Glucosylceramide Levels Are Regulated by ATP10D and Are Not Involved in Parkinson's Disease Pathogenesis.
PMID: 40022584
Ann Neurol · 2025
0.80
4
A gene variant in the Atp10d gene associates with atherosclerotic indices in Japanese elderly population.
PMID: 24125428
Atherosclerosis · 2013
0.70
5
Lipidomic and metabolic changes in the P4-type ATPase ATP10D deficient C57BL/6J wild type mice upon rescue of ATP10D function.
PMID: 28542499
PLoS One · 2017
0.60