AAK1 Gene Summary [Human]
This gene encodes a member of the SNF1 subfamily of serine/threonine protein kinases. Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit encodytic accessory factors. The encoded protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes binding of AP-2 to sorting signals found in membrane-bound receptors and subsequent receptor endocytosis. Its kinase activity is stimulated by clathrin. This kinase has been shown to play an important role in regulating the clathrin-mediated endocytosis of the rabies virus, facilitating infection. Inhibitors of this kinase are being studied as candidate therapeutics to disrupt the entry of viruses, including SARS-CoV-2, into target cells. It is also involved in positive regulation of Notch pathway signaling in mammals. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Aug 2020]
Details
| Type | Protein Coding |
| Official Symbol | AAK1 |
| Official Name | AP2 associated kinase 1 [Source:HGNC Symbol;Acc:HGNC:19679] |
| Ensembl ID | ENSG00000115977 |
| Bio databases IDs | |
| Aliases | AP2 associated kinase 1 |
| Synonyms | 2610306M01RIK, 5530400K14RIK, 9630042K20, AP2 associated kinase 1, AU067724, AU067726, C79663, D6Ertd245e, Gm38495, LOC112268437, mKIAA1048, RGD1563580 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human AAK1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein serine/threonine kinase
- Protein kinase (unclassified specificity)
- Protein tyrosine and serine/threonine kinase
- protein binding
- Protein kinase domain
- kinase
- Serine/Threonine protein kinases, catalytic domain
- kinase domain
- binding protein
- Protein Kinases, catalytic domain
- BMP-2-inducible protein kinase C-terminus
- Tyrosine kinase, catalytic domain
- notch binding
Pathways
Biological processes and signaling networks where the AAK1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- gout
- Parkinson disease
role in cell
- cell viability
- quantity
- cell death
- endocytosis in
- endocytosis
- organization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane-bounded organelle
- presynaptic regions
- Plasma Membrane
- cytosol
- clathrin-coated pits
- cell membrane leading edge
- axon terminals
- clathrin-coated vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AAK1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- membrane organization
- regulation of protein localization
- protein stabilization
- protein phosphorylation
- positive regulation of Notch signaling pathway
- regulation of clathrin-mediated endocytosis
Cellular Component
Where in the cell the gene product is active
- terminal button
- cell leading edge
- coated pit
- intracellular membrane-bounded organelle
- cytosol
- clathrin-coated vesicle
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- Notch binding
- protein serine/threonine kinase activity
- AP-2 adaptor complex binding