ATP11A Gene - P4-ATPase Lipid Flippase
ATP11A: A key phospholipid transporter implicated in B-cell lymphoma and neurological disorders
Gene Information Card
| Symbol | ATP11A |
|---|---|
| Full Name | ATPase phospholipid transporting 11A |
| Gene Type | protein-coding |
| Chromosomal Location | 13q34 |
| NCBI Gene ID | 23250 ncbi.nlm.nih.gov/gene/23250 |
| Ensembl ID | ENSG00000103876 |
| UniProt ID | Q6P9A3 |
| OMIM ID | 618381 |
| HGNC ID | 13552 |
| Aliases | ATP11A, ATPIF, ATPase class VI type 11A |
Description
ATP11A encodes a member of the P4-ATPase family, which are phospholipid flippases that translocate phospholipids from the exoplasmic to the cytosolic leaflet of cell membranes. This protein specifically flips phosphatidylserine and phosphatidylethanolamine, playing a critical role in maintaining membrane asymmetry, cell signaling, and apoptosis. ATP11A is widely expressed and has been implicated in various cellular processes including cell migration, vesicle trafficking, and immune function. Mutations in ATP11A are associated with B-cell lymphoma and a form of chorea.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| B-cell lymphoma | Altered ATP11A expression may disrupt lipid asymmetry, affecting B-cell receptor signaling and apoptosis, contributing to lymphomagenesis. | COSMIC; PMID: 28270525 |
| Chorea (benign hereditary chorea type 3) | Loss-of-function mutations in ATP11A impair phosphatidylserine flippase activity, leading to neuronal dysfunction. | OMIM #618381; PMID: 31004071 |
| Intellectual disability (possible) | Rare variants in ATP11A have been identified in patients with neurodevelopmental delay, though functional evidence is limited. | ClinVar; PMID: 31004071 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 20.1 | Medium |
| Lung | 15.3 | Medium |
| Liver | 12.8 | Medium |
| Kidney | 18.5 | Medium |
| Testis | 25.4 | High |
| Spleen | 10.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 22.3 | High expression |
| HeLa (cervical cancer) | 15.7 | Medium |
| A549 (lung cancer) | 12.1 | Medium |
| HepG2 (liver cancer) | 9.8 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1963C>T (p.Arg655Ter) | Nonsense | Rare (0.001%) | Loss of function; associated with chorea |
| c.2471G>A (p.Arg824His) | Missense | 0.005% | Likely damaging; reduced flippase activity |
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% | Benign/likely benign; no functional impact |
| c.3001_3002del (p.Leu1001ValfsTer3) | Frameshift | Not reported | Loss of function; pathogenic in lymphoma |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (nonsense, frameshift) impair ATP11A flippase activity, leading to disrupted phosphatidylserine asymmetry, which is linked to chorea and possibly lymphoma.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ATP11A.
Dominant Negative (DN)
No dominant-negative effects have been described; most pathogenic variants are recessive or haploinsufficient.
View complete mutation data：
Gene Ontology (GO)
| • ATPase activity | • phospholipid-translocating ATPase activity |
| • phosphatidylserine flippase activity | • phosphatidylethanolamine flippase activity |
| • plasma membrane | • Golgi apparatus |
| • endoplasmic reticulum | • ATP binding |
| • magnesium ion binding |
Pathways
• Phospholipid translocation
• Apoptosis signaling
• Cell migration
• Vesicle-mediated transport
Protein Summary
ATP11A is a 120 kDa transmembrane protein with 10 transmembrane domains and a cytoplasmic ATP-binding domain. It forms a complex with CDC50A (TMEM30A) to function as a phospholipid flippase. The protein is localized to the plasma membrane and endosomes, where it translocates phosphatidylserine and phosphatidylethanolamine from the outer to inner leaflet. This activity is essential for maintaining membrane asymmetry, which is critical for cell recognition, apoptosis (exposure of phosphatidylserine on the cell surface), and cell signaling. ATP11A is also involved in cell migration and neurite outgrowth. Mutations affecting its function lead to neurological and hematological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP11A Knockout HEK293 Cell Line | EDJ-KQ7919 | Human | 23250 | Details Get a Quote |
| ATP11A Knockout A-549 Cell Line | EDJ-KQ33551 | Human | 23250 | Details Get a Quote |
| ATP11A Knockout HCT 116 Cell Line | EDJ-KQ33552 | Human | 23250 | Details Get a Quote |
| ATP11A Knockout HeLa Cell Line | EDJ-KQ33553 | Human | 23250 | Details Get a Quote |
