AP2S1 Gene Summary [Human]
One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Details
| Type | Protein Coding |
| Official Symbol | AP2S1 |
| Official Name | adaptor related protein complex 2 subunit sigma 1 [Source:HGNC Symbol;Acc:HGNC:565] |
| Ensembl ID | ENSG00000042753 |
| Bio databases IDs | |
| Aliases | adaptor related protein complex 2 subunit sigma 1, sigma-2 |
| Synonyms | adaptor-related protein complex 2, sigma 1 subunit, adaptor related protein complex 2 subunit sigma 1, adaptor related protein complex 2 subunit σ 1, adaptor-related protein complex 2, σ 1 subunit, AI043088, AP17, Ap17-δ, AP2 SIGMA, AP-2 sigma 2, AP2 σ, AP-2 σ 2, CLAPS2, FBH3, FBHOk, HHC3 |
| 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 AP2S1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Clathrin adaptor complex small chain
- protein binding activity, bridging
- APS2
- protein binding
- Longin-like domains
- transporter
Pathways
Biological processes and signaling networks where the AP2S1 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
- familial hypocalciuric hypercalcemia type 3
- uterine leiomyoma
- leiomyomatosis
- neurodevelopmental disorder
regulates
- AP2 alpha
- NEF
role in cell
- assembly
- endocytosis by
- binding in
- endocytosis
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
- glutaminergic synapse
- endocytic vesicle membrane
- cell periphery
- Plasma Membrane
- cytosol
- lysosome membrane
- endosomal membrane
- synaptic vesicles
- synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AP2S1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- clathrin-mediated endocytosis
- vesicle-mediated transport
- synaptic vesicle endocytosis
- clathrin coat assembly
- regulation of endocytosis
- intracellular protein transport
Cellular Component
Where in the cell the gene product is active
- clathrin-coated endocytic vesicle membrane
- endolysosome membrane
- intracellular membrane-bounded organelle
- cytosol
- AP-2 adaptor complex
- clathrin-coated endocytic vesicle
- plasma membrane
- endocytic vesicle membrane
- internal side of plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- clathrin adaptor activity