RABGEF1 Gene Summary [Human]
RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM, Mar 2010]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | RABGEF1 |
| Official Name | RAB guanine nucleotide exchange factor 1 [Source:HGNC Symbol;Acc:HGNC:17676] |
| Ensembl ID | ENSG00000154710 |
| Bio databases IDs | |
| Aliases | RAB guanine nucleotide exchange factor 1 |
| Synonyms | Rab5ef, RABEX5, RAB guanine nucleotide exchange factor 1, RAB guanine nucleotide exchange factor (GEF) 1, RAP1, Rin2 |
| 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 RABGEF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- VPS9p domain
- ubiquitin protein ligase activity
- guanyl-nucleotide exchange factor
- Vacuolar sorting protein 9 (VPS9) domain
- enzyme binding
- A20-like zinc finger
- enzyme
- protein binding
- Domain of unknown function (DUF5601)
- early endosomal targeting domain
Pathways
Biological processes and signaling networks where the RABGEF1 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
- multiple system atrophy
- acute myeloid leukemia
- chronic inflammation
- ischemic stroke
- intrauterine growth retardation
- epidermal hyperplasia
- postnatal growth retardation
role in cell
- production in
- expression in
- activation in
- proliferation
- survival
- quantity
- accumulation in
- activation
- function
- accumulation
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
- cellular membrane
- endosomes
- vesicles
- cytosol
- endosomal membrane
- nucleoli
- early endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RABGEF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of inflammatory response
- protein transport
- Ras protein signal transduction
- negative regulation of Kit signaling pathway
- mast cell degranulation
- regulation of Fc receptor mediated stimulatory signaling pathway
- protein targeting to membrane
- receptor-mediated endocytosis
- negative regulation of mast cell degranulation
- negative regulation of interleukin-6 production
- negative regulation of leukocyte migration
- negative regulation of Ras protein signal transduction
- negative regulation of protein phosphorylation
- negative regulation of mast cell activation
- negative regulation of receptor-mediated endocytosis
- negative regulation of mast cell cytokine production
- Kit signaling pathway
Cellular Component
Where in the cell the gene product is active
- early endosome membrane
- endocytic vesicle
- dendrite
- early endosome
- cytosol
- recycling endosome
- nucleolus
Molecular Function
What the gene product does at the molecular level
- DNA binding
- zinc ion binding
- protein binding
- guanyl-nucleotide exchange factor activity
- small GTPase binding