ARFGEF1 Gene Summary [Human]
ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]
Details
| Type | Protein Coding |
| Official Symbol | ARFGEF1 |
| Official Name | ADP ribosylation factor guanine nucleotide exchange factor 1 [Source:HGNC Symbol;Acc:HGNC:15772] |
| Ensembl ID | ENSG00000066777 |
| Bio databases IDs | |
| Aliases | ADP ribosylation factor guanine nucleotide exchange factor 1, Brefeldin A-inhibited guanine nucleotide-exchange protein 1 |
| Synonyms | ARFGEP1, ARF guanine nucleotide exchange factor 1, BIG1, D130059B05Rik, D730028O18Rik, DEDISB, P200, p200 ARF-GEP1, RGD1560793 |
| 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 ARFGEF1 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 of unknown function (DUF1981)
- myosin binding
- Guanine nucleotide exchange factor in Golgi transport N-terminal
- protein kinase A binding
- Sec7 domain
- guanyl-nucleotide exchange factor
- Sec7
- R2 binding domain
- protein binding
- BIG2 C-terminal domain
- dimerization and cyclophilin-binding domain of Mon2
Pathways
Biological processes and signaling networks where the ARFGEF1 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
- ductal breast carcinoma
- ductal breast cancer
- COVID-19
- developmental delay, impaired speech, and behavioral abnormalities without seizures
- developmental delay, impaired speech, and behavioral abnormalities with or without seizures
- neurodevelopmental disorder
- developmental delay, impaired speech, behavioral abnormalities, and seizures
- hereditary disorder
- chronic central serous chorioretinopathy
role in cell
- phosphorylation in
- migration
- activation in
- orientation
- cell-matrix adhesion
- tubulation by
- exocytosis by
- accumulation in
- orientation in
- organization
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
- microtubule fractions
- perinuclear region
- cellular membrane
- Golgi Apparatus
- cytoplasmic particles
- cytosol
- Golgi membrane
- trans Golgi network
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ARFGEF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of GTPase activity
- positive regulation of wound healing
- negative regulation of actin filament polymerization
- Golgi organization
- protein transport
- protein glycosylation
- regulation of ARF protein signal transduction
- exocytosis
- endomembrane system organization
- regulation of establishment of cell polarity
Cellular Component
Where in the cell the gene product is active
- trans-Golgi network
- perinuclear region of cytoplasm
- nuclear matrix
- cytosol
- Golgi apparatus
- Golgi membrane
- nucleolus
- small nuclear ribonucleoprotein complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- GTPase activator activity
- guanyl-nucleotide exchange factor activity
- myosin binding
- protein kinase A regulatory subunit binding