RAB39B Gene Summary [Human]
This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. Mutations in this gene are associated with X-linked cognitive disability. [provided by RefSeq, Aug 2013]
Details
| Type | Protein Coding |
| Official Symbol | RAB39B |
| Official Name | RAB39B, member RAS oncogene family [Source:HGNC Symbol;Acc:HGNC:16499] |
| Ensembl ID | ENSG00000155961 |
| Bio databases IDs | |
| Aliases | RAB39B, member RAS oncogene family |
| Synonyms | 6330580M05RIK, BGMR, MRX72, RAB39B, member RAS oncogene family, WSMN, WSN, XLID72 |
| 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 RAB39B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- myosin binding
- small GTP-binding protein domain
- Small GTPase of the Ras superfamily (ill-defined subfamily)
- Ras family
- 50S ribosome-binding GTPase
- Rab subfamily of small GTPases
- enzyme
- protein binding
- Ras of Complex, Roc, domain of DAPkinase
- Rho (Ras homology) subfamily of Ras-like 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
- x-linked mental retardation type 72
- mental retardation
- neurodevelopmental disorder
- developmental disorder
- preeclampsia
- Waisman parkinsonism-mental retardation syndrome
- X-linked dominant Parkinson disease
role in cell
- autophagy by
- 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.
- Plasma Membrane
- vesicles
- Golgi Apparatus
- neurites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RAB39B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- vesicle-mediated transport
- synapse organization
- autophagy
- protein transport
- Rab protein signal transduction
- regulation of autophagy
Cellular Component
Where in the cell the gene product is active
- cytoplasmic vesicle membrane
- vesicle
- Golgi apparatus
- neuron projection
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- GTP binding
- protein binding
- GTPase activity
- myosin V binding