AP4E1 Gene Summary [Human]
This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | AP4E1 |
| Official Name | adaptor related protein complex 4 subunit epsilon 1 [Source:HGNC Symbol;Acc:HGNC:573] |
| Ensembl ID | ENSG00000081014 |
| Bio databases IDs | |
| Aliases | adaptor related protein complex 4 subunit epsilon 1 |
| Synonyms | 2310033A20RIK, 9930028M04Rik, Adaptor protein 4 ε, adaptor related protein complex 4 subunit epsilon 1, adaptor related protein complex 4 subunit ε 1, adaptor-related protein complex AP-4, epsilon 1, adaptor-related protein complex AP-4, ε 1, AP-4 epsilon, AP-4 ε, CPSQ4, RGD1562199, SPG51, STUT1 |
| 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 AP4E1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Coatomer beta subunit appendage platform
- protein binding
- Adaptin N terminal region
Pathways
Biological processes and signaling networks where the AP4E1 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
- autosomal recessive nonsyndromic mental retardation
- spastic paraplegia
- AP4-deficiency syndrome
- autosomal recessive spastic paraplegia type 51
- familial persistent stuttering type 1
- developmental disorder
- congenital disorder of glycosylation type 1g
role in cell
- accumulation in
- processing in
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
- endosomes
- trans Golgi network
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AP4E1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein targeting
- vesicle-mediated transport
- protein localization
- intracellular protein transport
Cellular Component
Where in the cell the gene product is active
- trans-Golgi network
- endosome lumen
- AP-4 adaptor complex
- trans-Golgi network membrane
Molecular Function
What the gene product does at the molecular level
- protein binding