RABEP1 Gene Summary [Human]
Enables protein domain specific binding activity and protein homodimerization activity. Involved in vesicle-mediated transport. Located in endocytic vesicle and endosome. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | RABEP1 |
| Official Name | rabaptin, RAB GTPase binding effector protein 1 [Source:HGNC Symbol;Acc:HGNC:17677] |
| Ensembl ID | ENSG00000029725 |
| Bio databases IDs | |
| Aliases | rabaptin, RAB GTPase binding effector protein 1 |
| Synonyms | AI481320, AV213537, AW240603, LOC54190, RAB5EP, rabaptin-5, rabaptin-5alpha, Rabaptin5 β, rabaptin, RAB GTPase binding effector protein 1, RABPT5 |
| 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 RABEP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- chromosome segregation protein SMC, primarily archaeal type
- Rabaptin-like protein
- Rab5 binding domain
- Rab4 binding domain
- Rabaptin
- coiled-coil domain
- protein domain specific binding
- protein binding
- Tuberin binding domain
- chromosome segregation protein SMC, common bacterial type
- RecF/RecN/SMC N terminal domain
- Rab binding domain
- Caspase 3 cleavage site
- protein homodimerization
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- myeloproliferative disorder
- metabolic syndrome X
role in cell
- growth
- migration
- fusion
- replication 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
- microsomal fraction
- membrane fraction
- glutaminergic synapse
- intracellular membrane-bounded organelle
- cellular membrane
- Plasma Membrane
- endosomes
- vesicles
- cytosol
- endosomal membrane
- synaptic vesicles
- growth cone
- synaptosomes
- early endosomes
- endocytotic vesicle
- perikaryon
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RABEP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- membrane fusion
- vesicle-mediated transport
- signal transduction
- protein transport
- apoptotic process
- Golgi to plasma membrane transport
- endocytosis
Cellular Component
Where in the cell the gene product is active
- early endosome membrane
- endocytic vesicle
- early endosome
- endosome
- intracellular membrane-bounded organelle
- macromolecular complex
- recycling endosome
Molecular Function
What the gene product does at the molecular level
- protein domain specific binding
- growth factor activity
- protein binding
- protein homodimerization activity
- GTPase activator activity