RBSN Gene Summary [Human]
This gene encodes a protein that belongs to the FYVE zinc finger family of proteins. The encoded protein interacts with Ras-related proteins that regulate membrane trafficking. A missense mutation in this gene is associated with a defect in the early endocytic pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Details
| Type | Protein Coding |
| Official Symbol | RBSN |
| Official Name | rabenosyn, RAB effector [Source:HGNC Symbol;Acc:HGNC:20759] |
| Ensembl ID | ENSG00000131381 |
| Bio databases IDs | |
| Aliases | rabenosyn, RAB effector, Rabenosyn-5 |
| Synonyms | 5330426D11RIK, KAREVS, LOC687006, LOC688545, MFANDO, Rabenosyn-5, rabenosyn, RAB effector, ZFYVE20 |
| 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 RBSN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FYVE domain like superfamily
- FYVE zinc finger
- Rabenosyn Rab binding domain
- enzyme binding
- PHD finger superfamily
- protein binding
- zinc finger domain
- phosphatidylinositol binding
- Rabosyn-5 repeating NPF sequence-motif
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Kariminejad-Reversade neurodevelopmental syndrome
- myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities
regulated by
- E2F1
- PI3K (complex)
role in cell
- fusion
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
- intracellular membrane-bounded organelle
- Plasma Membrane
- endosomes
- endosomal membrane
- early endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RBSN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein transport
- endosomal transport
- early endosome to Golgi transport
- Golgi to lysosome transport
Cellular Component
Where in the cell the gene product is active
- early endosome membrane
- endosome
- extracellular vesicular exosome
- intracellular membrane-bounded organelle
- cytosol
- endosome membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- protein binding
- small GTPase binding