ATP10A: A P4-ATPase Involved in Phospholipid Transport and Neurological Disorders
Comprehensive genomic and functional overview of ATP10A, a candidate gene for autism spectrum disorder and other neurodevelopmental conditions.
Gene Information Card
| Symbol | ATP10A |
|---|---|
| Full Name | ATPase phospholipid transporting 10A (alpha) |
| Gene Type | protein-coding |
| Chromosomal Location | 15q12 |
| NCBI Gene ID | 57194 ncbi.nlm.nih.gov/gene/57194 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | O60312 |
| OMIM ID | 605855 |
| HGNC ID | 13549 |
| Aliases | ATP10C, ATPVA, KIAA0566, P4-ATPase flippase complex alpha subunit ATP10A |
Description
ATP10A encodes a member of the P4-ATPase family, which functions as a phospholipid flippase that translocates phosphatidylserine from the outer to the inner leaflet of the plasma membrane. This gene is located on chromosome 15q12, a region associated with Prader-Willi and Angelman syndromes. ATP10A is imprinted and expressed predominantly from the maternal allele in brain tissues. It is implicated in neurological development and has been linked to autism spectrum disorder (ASD), intellectual disability, and epilepsy. The protein is also involved in lipid metabolism and vesicle-mediated transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism Spectrum Disorder | Altered phospholipid asymmetry may disrupt neuronal signaling and synaptic function. | Multiple studies show association of ATP10A variants with ASD; maternal expression loss implicated. |
| Angelman Syndrome | Deletion or imprinting defects at 15q11-q13 including ATP10A may contribute to phenotype. | Overlapping genomic region; ATP10A expression loss observed in some cases. |
| Intellectual Disability | Disruption of ATP10A function may impair neuronal membrane dynamics. | Rare variants reported in patients with ID. |
| Epilepsy | Phospholipid transport defects can alter neuronal excitability. | Case reports of ATP10A mutations in epilepsy cohorts. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Cerebellum | 12.5 | Medium |
| Cerebral Cortex | 9.1 | Medium |
| Testis | 4.3 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 6.8 | Neuronal model |
| U-87 MG (glioblastoma) | 5.4 | Glial model |
| HEK 293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% | Reduced flippase activity |
| c.2567delA (p.Lys856fs) | Frameshift | Rare | Loss of function |
| c.3456G>A (p.Trp1152*) | Nonsense | Rare | Premature truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated or absent protein, impairing phospholipid transport.
Gain of Function (GOF)
No gain-of-function mutations reported for ATP10A.
Dominant Negative (DN)
No dominant-negative mechanisms described; haploinsufficiency is suspected.
View complete mutation data：
Gene Ontology (GO)
| • phospholipid-translocating ATPase activity (GO:0004012) | • plasma membrane (GO:0005886) |
| • phospholipid transport (GO:0015914) | • phospholipid scrambling (GO:0017121) |
| • lipid transport (GO:0030148) |
Pathways
• Phospholipid translocation (Reactome: R-HSA-1483206)
• Membrane trafficking (Reactome: R-HSA-199991)
Protein Summary
ATP10A is a 1453-amino acid P4-ATPase that forms a flippase complex with CDC50A/B to translocate phosphatidylserine across membranes. It contains ten transmembrane domains and conserved ATP-binding and phosphorylation domains. The protein is essential for maintaining membrane lipid asymmetry, which is critical for vesicle budding, cell signaling, and neuronal function. Mutations in ATP10A are associated with neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP10A Knockout HEK293 Cell Line | EDJ-KQ11921 | Human | 57194 | Details Get a Quote |
| ATP10A Knockout A-549 Cell Line | EDJ-KQ40414 | Human | 57194 | Details Get a Quote |
| ATP10A Knockout HeLa Cell Line | EDJ-KQ56823 | Human | 57194 | Details Get a Quote |
| ATP10A Knockout HCT 116 Cell Line | EDJ-KQ73770 | Human | 57194 | Details Get a Quote |
