RAPGEF1 Gene Summary [Human]
This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | RAPGEF1 |
| Official Name | Rap guanine nucleotide exchange factor 1 [Source:HGNC Symbol;Acc:HGNC:4568] |
| Ensembl ID | ENSG00000107263 |
| Bio databases IDs | |
| Aliases | Rap guanine nucleotide exchange factor 1 |
| Synonyms | 4932418O06Rik, C3G, C3G-1, C3G-2, GRF2, Rap guanine nucleotide exchange factor 1, Rap guanine nucleotide exchange factor (GEF) 1 |
| 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 RAPGEF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ras exchanger motif
- catalytic domain
- Cdc25 domain
- protein binding
- RasGEF
- proline rich domain
- polyproline motif
- Sh3 domain binding motif
- crk/CRKL binding domain
- destruction box
- guanyl-nucleotide exchange factor
- IQ domain
- Dbl homology domain
- guanine nucleotide exchange factor domain
- REM
Pathways
Biological processes and signaling networks where the RAPGEF1 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
- cutaneous melanoma
- cutaneous melanoma cancer
- opioid dependence
- Philadelphia-positive chronic myeloid leukemia
- cleft lip
- idiopathic scoliosis
- polyglandular autoimmune syndrome type 1
- B-cell non-Hodgkin lymphoma
- B-cell non-Hodgkin disease
- infection by HIV-1
role in cell
- apoptosis
- formation
- expression in
- proliferation
- migration
- adhesion
- necrosis
- cell death
- binding
- morphology
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
- intracellular membrane-bounded organelle
- perinuclear region
- Nucleus
- cytosol
- nuclear speckles
- nuclear matrix
- early endosomes
- chromatin
- phagosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RAPGEF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- signal transduction
- cellular response to cAMP
- nervous system development
- transmembrane receptor protein tyrosine kinase signaling pathway
- Ras protein signal transduction
- positive regulation of neuron projection development
- Rap protein signal transduction
- establishment of endothelial barrier
- positive regulation of GTPase activity
Cellular Component
Where in the cell the gene product is active
- early endosome
- cytoplasm
- intracellular membrane-bounded organelle
- cytosol
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- guanyl-nucleotide exchange factor activity
- SH3 domain binding