RAPGEF6 Gene Summary [Human]
Enables several functions, including GTP-dependent protein binding activity; guanyl-nucleotide exchange factor activity; and phosphatidic acid binding activity. Involved in microvillus assembly; positive regulation of GTPase activity; and protein localization to plasma membrane. Located in several cellular components, including apical plasma membrane; centrosome; and endocytic vesicle. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | RAPGEF6 |
| Official Name | Rap guanine nucleotide exchange factor 6 [Source:HGNC Symbol;Acc:HGNC:20655] |
| Ensembl ID | ENSG00000158987 |
| Bio databases IDs | |
| Aliases | Rap guanine nucleotide exchange factor 6 |
| Synonyms | A530068K01, AI844632, BB085664, C030018K18RIK, KIA001LB, mKIAA4052, PDZ-GEF2, RA-GEF-2, Rap guanine nucleotide exchange factor 6, Rap guanine nucleotide exchange factor (GEF) 6 |
| 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 RAPGEF6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phospholipid binding
- Domain present in PSD-95, Dlg, and ZO-1/2
- GTP-dependent protein binding
- canonical PDZ domain
- enzyme binding
- protein binding
- RasGEF
- PDZ domain
- Cyclic nucleotide-monophosphate binding domain
- Cyclic nucleotide-binding domain
- binding protein
- guanyl-nucleotide exchange factor
- Ubl1_cv_Nsp3_N-like
- Ras/Rap binding domain
- CAP_ED
- REM
Pathways
Biological processes and signaling networks where the RAPGEF6 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
- venous thromboembolism
- Alzheimer disease
- asthma
- oligozoospermia
- sporadic schizophrenia
- coronary artery disease
- ischemic stroke
- asthenozoospermia
role in cell
- aggregation
- abnormal morphology
- assembly
- adhesion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Cytoplasm
- centrosome
- cytosol
- apical membrane
- endocytotic vesicle
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RAPGEF6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of GTPase activity
- microvillus assembly
- Ras protein signal transduction
- protein localization in plasma membrane
- positive regulation of GTPase activity
Cellular Component
Where in the cell the gene product is active
- endocytic vesicle
- centrosome
- cytosol
- plasma membrane
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- guanyl-nucleotide exchange factor activity
- small GTPase binding
- phosphatidic acid binding
- GTP-dependent protein binding