RAB27A Gene Summary [Human]
The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | RAB27A |
| Official Name | RAB27A, member RAS oncogene family [Source:HGNC Symbol;Acc:HGNC:9766] |
| Ensembl ID | ENSG00000069974 |
| Bio databases IDs | |
| Aliases | RAB27A, member RAS oncogene family |
| Synonyms | 2210402C08Rik, 2410003M20Rik, 4933437C11Rik, ash, GS2, HsT18676, RAB27, RAB27A, member RAS oncogene family, RAM |
| 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 RAB27A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- effector loop
- Small GTPase of the Ras superfamily (ill-defined subfamily)
- Ras family
- GTPase
- protein domain specific binding
- enzyme
- protein binding
- Ras subfamily of RAS small GTPases
- GTP binding
- myosin binding
- ADP-ribosylation factor family
- CAAX box
- small GTP-binding protein domain
- GDP binding
- Rab subfamily of small GTPases
- 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
Pathways
Biological processes and signaling networks where the RAB27A 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
- passive cutaneous anaphylaxis
- neoplasia
- Griscelli syndrome type 2
- Griscelli syndrome
- autoinflammatory disorder
- septic shock
- organismal death
- hereditary disorder
- plaque psoriasis
- neutropenia
role in cell
- expression in
- production in
- phosphorylation in
- association
- quantity
- apoptosis
- formation
- invasion by
- disassembly in
- binding 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
- dense core secretory granule fraction
- plasma membrane fraction
- membrane fraction
- dendrite tip
- insulin granule
- exocytic vesicle
- secretory granule lumen
- cytoskeleton
- Extracellular Space
- cell periphery
- intracellular space
- perinuclear region
- membrane surface
- cellular membrane
- filamentous network
- Nucleus
- Plasma Membrane
- vesicles
- lysosome
- Golgi Apparatus
- secretory granule membrane
- granules
- cytosol
- apical cell surfaces
- apical membrane
- dense granule
- alpha granule membranes
- insulin secretory granules
- neurites
- photoreceptor outer segments
- Weibel-Palade bodies
- late endosomes
- perinuclear vesicles
- dense-core vesicles
- cytoplasmic vesicles
- melanosomes
- multivesicular bodies
- azurophil granules
- pigment granules
- secretory granules
- dendrites
- melanosomal membrane
- clathrin-coated vesicles
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RAB27A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- natural killer cell degranulation
- blood coagulation
- protein secretion
- exocytosis
- cytotoxic T cell degranulation
- positive regulation of exocytosis
- complement-dependent cytotoxicity
- melanocyte differentiation
- synaptic vesicle transport
- positive regulation of gene expression
- multivesicular body sorting pathway
- melanosome localization
- antigen processing and presentation
- positive regulation of phagocytosis
- melanosome transport
Cellular Component
Where in the cell the gene product is active
- melanosome membrane
- Weibel-Palade body
- specific granule lumen
- secretory granule
- late endosome
- Golgi apparatus
- extracellular region
- lysosome
- photoreceptor outer segment
- exocytic vesicle
- dendrite
- extracellular vesicular exosome
- melanosome
- cytosol
- multivesicular body membrane
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- GTP binding
- protein domain specific binding
- protein binding
- GTPase activity
- small monomeric GTPase activity
- GDP binding
- myosin V binding