RAB23 Gene Summary [Human]
This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Details
| Type | Protein Coding |
| Official Symbol | RAB23 |
| Official Name | RAB23, member RAS oncogene family [Source:HGNC Symbol;Acc:HGNC:14263] |
| Ensembl ID | ENSG00000112210 |
| Bio databases IDs | |
| Aliases | RAB23, member RAS oncogene family |
| Synonyms | HSPC137, opb, opb2, rab-15, RAB23, member RAS oncogene family |
| 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 RAB23 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 GTP-binding protein domain
- Small GTPase of the Ras superfamily (ill-defined subfamily)
- Ras family
- Rab subfamily of small GTPases
- GTPase
- enzyme
- protein binding
- Ras of Complex, Roc, domain of DAPkinase
- Rho (Ras homology) subfamily of Ras-like small GTPases
- Ran (Ras-related nuclear proteins) /TC4 subfamily of small GTPases
- P-loop containing Nucleoside Triphosphate Hydrolases
- Ras subfamily of RAS small GTPases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- acrocephalopolysyndactyly type II
- hereditary disorder
- Carpenter syndrome type 1
- survival
- leiomyoma
- leiomyomatosis
role in cell
- apoptosis
- assembly
- proliferation
- formation
- differentiation
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
- cell junction
- cilia
- Plasma Membrane
- basal bodies
- centrosome
- cytosol
- endosomal membrane
- autophagic vacuoles
- phagosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RAB23 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- autophagic vacuole assembly
- cellular defense response
- negative regulation of protein import into nucleus
- cilium morphogenesis
- GTP metabolic process
- craniofacial suture morphogenesis
- intracellular protein transport
Cellular Component
Where in the cell the gene product is active
- centrosome
- cytoplasm
- phagocytic vesicle
- phagocytic vesicle membrane
- cytosol
- endomembrane system
- cell junction
- endosome membrane
- plasma membrane
- autophagic vacuole
Molecular Function
What the gene product does at the molecular level
- GTP binding
- protein binding
- GTPase activity