RAPGEF3 Gene Summary [Human]
Enables guanyl-nucleotide exchange factor activity and protein domain specific binding activity. Involved in several processes, including positive regulation of protein modification process; regulation of actin cytoskeleton organization; and regulation of syncytium formation by plasma membrane fusion. Located in filopodium; lamellipodium; and microvillus. Colocalizes with cortical actin cytoskeleton and plasma membrane. Biomarker of congestive heart failure. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | RAPGEF3 |
| Official Name | Rap guanine nucleotide exchange factor 3 [Source:HGNC Symbol;Acc:HGNC:16629] |
| Ensembl ID | ENSG00000079337 |
| Bio databases IDs | |
| Aliases | Rap guanine nucleotide exchange factor 3, exchange protein directly activated by cAMP 1 |
| Synonyms | 2310016P22Rik, 9330170P05Rik, bcm910, CAMP-GEFI, CGEF1, EPAC, EPAC1, HSU79275, Rap guanine nucleotide exchange factor 3, Rap guanine nucleotide exchange factor (GEF) 3 |
| 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 RAPGEF3 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)
- Ras exchanger motif
- cAMP binding domain
- catalytic domain
- protein domain specific binding
- protein binding
- RasGEF
- Cyclic nucleotide-monophosphate binding domain
- DEP
- Cyclic nucleotide-binding domain
- 3',5'-cAMP binding
- guanyl-nucleotide exchange factor
- ion channel binding
- guanine nucleotide exchange factor domain
- REM
- CAP_ED
Pathways
Biological processes and signaling networks where the RAPGEF3 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
- insulin resistance
- dilated cardiomyopathy
- heart failure
- Klinefelter syndrome
- hypothyroidism
- hyperplasia
- insulitis
- seizures
- autosomal recessive polycystic kidney disease
- weight gain
role in cell
- quantity
- expression in
- synthesis in
- apoptosis
- proliferation
- number
- phosphorylation in
- survival
- migration
- formation
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
- cortical actin cytoskeleton
- Cytoplasm
- perinuclear membrane
- apical compartment
- perinuclear region
- basolateral cell compartment
- cellular membrane
- filamentous network
- Plasma Membrane
- centrosome
- Mitochondria
- cell-cell contacts
- granule membrane
- basal membrane
- inner nuclear membrane
- outer nuclear membrane
- nuclear envelope
- zymogen granules
- growth cone
- neurites
- synaptosomes
- sarcolemma
- brush border
- microvilli
- filopodia
- mitotic spindle
- perikaryon
- axons
- axon terminals
- ribbon synapse
- lamellipodia
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RAPGEF3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of syncytium formation by plasma membrane fusion
- positive regulation of protein export from nucleus
- signal transduction
- negative regulation of syncytium formation by plasma membrane fusion
- adaptive immune response
- regulation of angiogenesis
- Ras protein signal transduction
- adenylate cyclase-activating G-protein coupled receptor signaling pathway
- associative learning
- establishment of endothelial barrier
- positive regulation of angiogenesis
- positive regulation of GTPase activity
- regulation of protein kinase B signaling cascade
- regulation of actin cytoskeleton organization
- positive regulation of stress fiber assembly
- angiogenesis
- cellular response to cAMP
- Rap protein signal transduction
- intracellular signal transduction
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- microvillus
- membrane
- filopodium
- endomembrane system
- plasma membrane
- cortical actin cytoskeleton
- lamellipodium
Molecular Function
What the gene product does at the molecular level
- protein domain specific binding
- protein binding
- guanyl-nucleotide exchange factor activity
- cAMP binding