AAGAB Gene Summary [Human]
The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
Details
| Type | Protein Coding |
| Official Symbol | AAGAB |
| Official Name | alpha and gamma adaptin binding protein [Source:HGNC Symbol;Acc:HGNC:25662] |
| Ensembl ID | ENSG00000103591 |
| Bio databases IDs | |
| Aliases | alpha and gamma adaptin binding protein |
| Synonyms | 2310007F21Rik, alpha- and gamma-adaptin binding protein, DKFZP566A0646, KPPP1, LOC619540, P34, PPKP1, PPKP1A, α- and γ-adaptin binding protein |
| 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 AAGAB 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 binding
- Alpha and gamma adaptin binding protein p34
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- cytosol
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AAGAB gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein transport
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- nuclear speck
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding