GBF1 Gene Summary [Human]
This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
Details
| Type | Protein Coding |
| Official Symbol | GBF1 |
| Official Name | golgi brefeldin A resistant guanine nucleotide exchange factor 1 [Source:HGNC Symbol;Acc:HGNC:4181] |
| Ensembl ID | ENSG00000107862 |
| Bio databases IDs | |
| Aliases | golgi brefeldin A resistant guanine nucleotide exchange factor 1 |
| Synonyms | 1700083E03RIK, AI035702, ARF1GEF, AW049900, CMT2GG, CMTDI2, CMTDIA, golgi brefeldin A resistant guanine nucleotide exchange factor 1, golgi-specific brefeldin A-resistance factor 1, mKIAA0248, RGD1307160 |
| 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 GBF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- HDS domain
- Guanine nucleotide exchange factor in Golgi transport N-terminal
- binding protein
- phosphatidylinositol-3,4,5-triphosphate binding
- Sec7
- Sec7 domain
- guanyl-nucleotide exchange factor
- DCB domain
- protein binding
- phosphatidylinositol binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Charcot-Marie-Tooth disease axonal type 2GG
- Parkinson disease
- opioid-related disorder
- digestive system disorder
- pervasive developmental disorder
- atrial fibrillation
- epilepsy
- cannabis dependence
- infection by lymphocytic choriomeningitis virus
- infection by vesicular stomatitis virus
role in cell
- replication in
- phosphorylation in
- growth
- assembly
- chemotaxis
- mitosis
- organization
- response by
- trafficking in
- glycosylation in
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
- pH resistant lipid raft fraction
- perinuclear region
- Golgi Apparatus
- membrane compartment
- ER-to-Golgi intermediate compartment
- cytosol
- endoplasmic reticulum lumen
- Golgi membrane
- Golgi stacks
- trans Golgi network
- cis Golgi networks
- peroxisomes
- cell membrane leading edge
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GBF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- establishment of monopolar cell polarity
- retrograde vesicle-mediated transport, Golgi to ER
- protein localization in Golgi apparatus
- Golgi organization
- Golgi disassembly
- protein transport
- COPI coating of Golgi vesicle
- cell activation involved in immune response
- post-Golgi vesicle-mediated transport
- retrograde transport, endosome to Golgi
- regulation of mitotic cell cycle
- Golgi to endosome transport
- endoplasmic reticulum-Golgi intermediate compartment organization
- ER to Golgi vesicle-mediated transport
- regulation of protein localization at cell surface
- protein localization to endoplasmic reticulum exit site
- neutrophil chemotaxis
- regulation of ARF protein signal transduction
Cellular Component
Where in the cell the gene product is active
- lipid particle
- trans-Golgi network
- cis-Golgi network
- cell leading edge
- membrane
- cytosol
- Golgi membrane
- Golgi apparatus
- endoplasmic reticulum-Golgi intermediate compartment
Molecular Function
What the gene product does at the molecular level
- phosphatidylinositol-3,4,5-trisphosphate binding
- protein binding
- guanyl-nucleotide exchange factor activity
- phosphatidylinositol-3,5-bisphosphate binding