RAPGEF5 Gene Summary [Human]
Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]
Details
| Type | Protein Coding |
| Official Symbol | RAPGEF5 |
| Official Name | Rap guanine nucleotide exchange factor 5 [Source:HGNC Symbol;Acc:HGNC:16862] |
| Ensembl ID | ENSG00000136237 |
| Bio databases IDs | |
| Aliases | Rap guanine nucleotide exchange factor 5, M-Ras-regulated GEF |
| Synonyms | 4932413M22, D030051B22Rik, GFR, LOC100361497, LOC285936, mKIAA0277, mmr-gef, MR-GEF, Rap guanine nucleotide exchange factor 5, Rap guanine nucleotide exchange factor (GEF) 5, Related to Epac, REPAC, RGD1562891, rMR-GEF |
| 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 RAPGEF5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP)
- DEP
- GTP-dependent protein binding
- catalytic domain
- guanyl-nucleotide exchange factor
- protein binding
- RasGEF
- REM
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- glioblastoma
- glaucoma
- diabetic nephropathy
- glioblastoma cancer
- major depression
- acute tonsillitis
- dilated cardiomyopathy 1A
- osteonecrosis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RAPGEF5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- small GTPase mediated signal transduction
- nervous system development
- Ras protein signal transduction
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- guanyl-nucleotide exchange factor activity
- GTP-dependent protein binding