RAB18 Gene Summary [Human]
The protein encoded by this gene is a member of a family of Ras-related small GTPases that regulate membrane trafficking in organelles and transport vesicles. Knockdown studies is zebrafish suggest that this protein may have a role in eye and brain development. Mutations in this gene are associated with Warburg micro syndrome type 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | RAB18 |
| Official Name | RAB18, member RAS oncogene family [Source:HGNC Symbol;Acc:HGNC:14244] |
| Ensembl ID | ENSG00000099246 |
| Bio databases IDs | |
| Aliases | RAB18, member RAS oncogene family |
| Synonyms | RAB18LI1, RAB18, member RAS oncogene family, WARBM3 |
| 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 RAB18 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Small GTPase of the Ras superfamily (ill-defined subfamily)
- Ras family
- 50S ribosome-binding GTPase
- GTPase
- enzyme
- protein binding
- Ras subfamily of RAS small GTPases
- ADP-ribosylation factor family
- small GTP-binding protein domain
- GDP binding
- Rab subfamily of small GTPases
- Elongation factor Tu GTP binding domain
- Ras of Complex, Roc, domain of DAPkinase
- ADP-ribosylation factor
- Rho (Ras homology) subfamily of Ras-like small GTPases
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- warburg micro syndrome type 3
- Warburg Micro syndrome
regulates
role in cell
- number
- formation
- disruption
- size
- organization
- disruption in
- association in
- replication
- spreading
- association
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
- membrane fraction
- pH resistant lipid raft fraction
- endoplasmic reticulum tubules
- cell periphery
- perinuclear region
- membrane surface
- cellular membrane
- Plasma Membrane
- Golgi Apparatus
- Endoplasmic Reticulum
- secretory granule membrane
- lipid droplets
- cytosol
- endoplasmic reticulum membrane
- growth cone
- synapse
- endocytotic vesicle
- smooth endoplasmatic reticulum
- rough endoplasmatic reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RAB18 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- eye development
- small GTPase mediated signal transduction
- lipid particle organization
- brain development
- endoplasmic reticulum tubular network organization
- intracellular protein transport
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- lipid particle
- secretory granule membrane
- endoplasmic reticulum tubular network
- endomembrane system
- cytosol
- Golgi apparatus
- plasma membrane
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- GTP binding
- protein binding
- GTPase activity
- GDP binding