AP4M1 Gene Summary [Human]
This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | AP4M1 |
| Official Name | adaptor related protein complex 4 subunit mu 1 [Source:HGNC Symbol;Acc:HGNC:574] |
| Ensembl ID | ENSG00000221838 |
| Bio databases IDs | |
| Aliases | adaptor related protein complex 4 subunit mu 1, mu-adaptin-related protein-2, mu subunit of AP-4, AP-4 adapter complex mu subunit, adaptor-related protein complex AP-4 mu4 subunit |
| Synonyms | 4930443L05Rik, adaptor related protein complex 4 subunit mu 1, adaptor-related protein complex AP-4, mu 1, Ap4m4, CPSQ3, MU-4, MU-ARP2, SPG50 |
| 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 AP4M1 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 carrier
- Clathrin adaptor complex small chain
- AP_MHD_Cterm
- protein domain specific binding
- Adaptor complexes medium subunit family
- protein binding
- Longin-like domains
Pathways
Biological processes and signaling networks where the AP4M1 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
- mental retardation
- Alzheimer disease
- autosomal recessive spastic paraplegia type 50
- spastic paraplegia
- hereditary disorder
- AP4-deficiency syndrome
- hereditary spastic paraplegia
- autosomal recessive nonsyndromic mental retardation
role in cell
- assembly
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
- membrane fraction
- perinuclear region
- endosomes
- trans Golgi network
- early endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AP4M1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein transmembrane transport
- autophagic vacuole assembly
- protein targeting
- vesicle-mediated transport
- protein localization
- post-Golgi vesicle-mediated transport
- protein targeting to lysosome
- Golgi to lysosome transport
- intracellular protein transport
- Golgi to endosome transport
Cellular Component
Where in the cell the gene product is active
- trans-Golgi network
- early endosome
- extracellular vesicular exosome
- endosome lumen
- cytosol
- cytoplasmic vesicle
- clathrin adaptor complex
- AP-4 adaptor complex
- trans-Golgi network membrane
Molecular Function
What the gene product does at the molecular level
- protein domain specific binding
- protein binding
- protein transmembrane transporter activity