RAB38 Gene Summary [Human]
Enables several functions, including AP-1 adaptor complex binding activity; AP-3 adaptor complex binding activity; and BLOC-2 complex binding activity. Involved in several processes, including endosome to melanosome transport; melanosome assembly; and phagosome acidification. Located in several cellular components, including cytoplasmic vesicle; lysosome; and mitochondria-associated endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | RAB38 |
| Official Name | RAB38, member RAS oncogene family [Source:HGNC Symbol;Acc:HGNC:9776] |
| Ensembl ID | ENSG00000123892 |
| Bio databases IDs | |
| Aliases | RAB38, member RAS oncogene family |
| Synonyms | 2310011F14Rik, cht, NY-MEL-1, RAB38, member RAS oncogene family, rrGTPbp, Ruby |
| 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 RAB38 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- GTP-dependent protein binding
- Small GTPase of the Ras superfamily (ill-defined subfamily)
- Ras family
- GTPase
- enzyme
- protein binding
- Ras subfamily of RAS small GTPases
- GTP binding
- binding protein
- small GTP-binding protein domain
- Rab subfamily of small GTPases
- 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
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- lung adenocarcinoma formation
- plaque psoriasis
- frontotemporal dementia
- oral squamous cell carcinoma
- squamous cell cancer of the oral cavity
- aldosterone producing adrenocortical adenoma
- adenoma formation
- EGFR mutation positive adenocarcinoma of the lung
- EGFR mutation positive non-small cell lung cancer
- EGFR expression positive non-squamous non-small cell lung cancer
role in cell
- phosphorylation in
- formation
- quantity
- organization
- acidification
- trafficking
- assembly
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
- endoplasmic reticulum mitochondria contact site
- perinuclear region
- cellular membrane
- Plasma Membrane
- vesicles
- lysosome
- Golgi Apparatus
- Endoplasmic Reticulum
- Mitochondria
- membrane compartment
- cytosol
- trans Golgi network
- early endosomes
- late endosomes
- melanosomes
- perikaryon
- phagosomes
- lysosome-related organelle
- vesicle fraction
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RAB38 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- platelet dense granule organization
- small GTPase mediated signal transduction
- protein transport
- phagosome acidification
- intracellular protein transport
- mitochondrion organization
- positive regulation of melanin biosynthetic process
- melanosome organization
- vesicle-mediated transport
- endosome to melanosome transport
- positive regulation of phosphatidylcholine biosynthetic process
- protein localization in membrane
Cellular Component
Where in the cell the gene product is active
- melanosome membrane
- phagocytic vesicle
- ER-mitochondrion membrane contact site
- plasma membrane
- lysosome
- early endosome
- trans-Golgi network
- perinuclear region of cytoplasm
- early endosome lumen
- melanosome
- membrane
- cell body
- mitochondrion
- cytosol
- phagocytic vesicle membrane
- endomembrane system
Molecular Function
What the gene product does at the molecular level
- GTP binding
- AP-1 adaptor complex binding
- AP-3 adaptor complex binding
- protein binding
- GTPase activity
- AP-2 adaptor complex binding
- GTP-dependent protein binding