RAB40AL Gene Summary [Human]
This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. Disruptions in this gene are associated with Duchenne muscular dystrophy. [provided by RefSeq, Apr 2010]
Details
| Type | Protein Coding |
| Official Symbol | RAB40AL |
| Official Name | RAB40A like [Source:HGNC Symbol;Acc:HGNC:25410] |
| Ensembl ID | ENSG00000102128 |
| Bio databases IDs | |
| Aliases | RAB40A like, Ras like GTPase |
| Synonyms | MRXSMP, RAB40A like, RAR2, RLGP |
| Species | Human, Homo sapiens |
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 RAB40AL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SOCS box
- small GTP-binding protein domain
- Small GTPase of the Ras superfamily (ill-defined subfamily)
- Ras family
- Rab subfamily of small GTPases
- SOCS
- 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
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
- Cytoplasm
- Mitochondria
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RAB40AL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- exocytosis
- protein secretion
- intracellular signal transduction
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- endosome
- cytoplasm
- synaptic vesicle
- mitochondrion
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- GTP binding
- GTPase activity