TBC1D20 Gene Summary [Human]
This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replication. Depletion of this protein inhibits replication of the virus and HCV infection. Mutations in this gene are associated with Warburg micro syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | TBC1D20 |
| Official Name | TBC1 domain family member 20 [Source:HGNC Symbol;Acc:HGNC:16133] |
| Ensembl ID | ENSG00000125875 |
| Bio databases IDs | |
| Aliases | TBC1 domain family member 20 |
| Synonyms | 1110028I04Rik, 2810442O16RIK, AI414693, bs, C20orf140, PRP6, TBC1 domain family member 20, TBC1 domain family, member 20, WARBM4 |
| 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 TBC1D20 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rab-GTPase-TBC domain
- Domain in Tre-2, BUB2p, and Cdc16p
- enzyme binding
- GTPase activator
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- cellular membrane
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- Golgi membrane
- nuclear envelope
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TBC1D20 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- acrosome assembly
- ER to Golgi vesicle-mediated transport
- lens fiber cell morphogenesis
- seminiferous tubule development
- Golgi organization
- cargo loading into COPII-coated vesicle
- virion assembly
- lipid particle organization
- positive regulation of viral protein levels in host cell
- positive regulation of GTPase activity
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- nuclear membrane
- Golgi membrane
- endoplasmic reticulum
- endoplasmic reticulum-Golgi intermediate compartment membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- GTPase activator activity
- small GTPase binding