AP2A1
Adaptor Related Protein Complex 2 Subunit Alpha 1
Gene Information Card
| Symbol | AP2A1 |
|---|---|
| Full Name | Adaptor Related Protein Complex 2 Subunit Alpha 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 160 ncbi.nlm.nih.gov/gene/160 |
| Ensembl ID | ENSG00000196924 |
| UniProt ID | O95782 |
| OMIM ID | 601026 |
| HGNC ID | 562 |
| Aliases | ADTAA, AP2-ALPHA, CLAPA1, 100 kDa coated vesicle protein A |
Description
The AP2A1 gene encodes the alpha-1 subunit of the adaptor protein complex 2 (AP-2), which is a heterotetrameric complex that plays a central role in clathrin-mediated endocytosis. The AP-2 complex links clathrin to the plasma membrane and recognizes cargo proteins via their internalization signals, facilitating the formation of endocytic vesicles. AP2A1 is essential for receptor-mediated endocytosis and intracellular trafficking.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal dominant 66 | Missense mutations in AP2A1 disrupt AP-2 complex function, impairing synaptic vesicle endocytosis and neuronal signaling | ClinVar, OMIM |
| Epileptic encephalopathy, early infantile | De novo variants in AP2A1 alter clathrin-mediated endocytosis in neurons, leading to synaptic dysfunction | ClinVar, OMIM |
| Cancer (various) | Altered AP2A1 expression may affect endocytosis of growth factor receptors, influencing tumor progression | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 18.2 | High |
| Testis | 12.5 | Medium |
| Lung | 9.8 | Medium |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.4 | High expression |
| HeLa | 15.7 | Medium expression |
| K562 | 8.9 | Low expression |
| HepG2 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.689G>A (p.Arg230Gln) | Missense | Rare | Impairs AP-2 complex assembly and endocytosis |
| c.1124C>T (p.Thr375Met) | Missense | Rare | Reduced binding to clathrin and cargo |
| c.1630G>A (p.Glu544Lys) | Missense | Rare | Disrupts cargo recognition |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg230Gln) reduce AP-2 complex stability and endocytic activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by incorporating into the AP-2 complex and impairing its function.
View complete mutation data：
Gene Ontology (GO)
| • clathrin adaptor activity | • protein binding |
| • clathrin-coated vesicle | • endocytosis |
| • intracellular protein transport | • plasma membrane |
Pathways
• Clathrin-mediated endocytosis
• Endocytosis
• Synaptic vesicle cycle
Protein Summary
AP2A1 is a 977-amino acid protein that forms the large alpha subunit of the AP-2 complex. It contains a trunk domain that binds cargo and clathrin, and a hinge domain that interacts with accessory proteins. The protein is ubiquitously expressed, with highest levels in brain and testis. It is essential for clathrin-coated vesicle formation and receptor internalization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AP2A1 Knockout HEK293 Cell Line | EDJ-KQ4015 | Human | 160 | Details Get a Quote |
| AP2A1 Knockout A-549 Cell Line | EDJ-KQ26343 | Human | 160 | Details Get a Quote |
| AP2A1 Knockout HCT 116 Cell Line | EDJ-KQ26344 | Human | 160 | Details Get a Quote |
| AP2A1 Knockout HeLa Cell Line | EDJ-KQ26345 | Human | 160 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
