Tbc1d7 Gene Summary [Mouse]
Predicted to enable GTPase activator activity; TSC1-TSC2 complex binding activity; and small GTPase binding activity. Involved in activation of GTPase activity and negative regulation of TOR signaling. Predicted to be located in ciliary basal body; cytoplasmic vesicle; and cytosol. Predicted to be part of TSC1-TSC2 complex. Predicted to be active in lysosomal membrane. Is expressed in adrenal medulla; cranial ganglion; and dorsal root ganglion. Orthologous to human TBC1D7 (TBC1 domain family member 7). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Tbc1d7 |
| Official Name | TBC1 domain family, member 7 [Source:MGI Symbol;Acc:MGI:1914296] |
| Ensembl ID | ENSMUSG00000021368 |
| Bio databases IDs | |
| Aliases | TBC1 domain family, member 7 |
| Synonyms | 2610009C09RIK, MGCPH, PIG51, Tbc1d7 predicted, TBC1 domain family member 7, TBC1 domain family, member 7, TBC7 |
| Species | Mouse, Mus musculus |
| 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 mouse Tbc1d7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 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.
disease
- macrocephaly
- autosomal recessive macrocephaly/megalencephaly syndrome
- global developmental delay with intellectual disability
role in cell
- formation
- binding in
- signaling in
- growth
- response
- assembly
- size
- autophagy by
- autophagy in
- cross-sectional area
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
- basal bodies
- lysosome
- cytosol
- lysosome membrane
- cytoplasmic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Tbc1d7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to growth factor stimulus
- positive regulation of protein ubiquitination
- cellular response to starvation
- negative regulation of TOR signaling cascade
- positive regulation of GTPase activity
Cellular Component
Where in the cell the gene product is active
- cilium basal body
- cytoplasmic vesicle
- cytosol
- TSC1-TSC2 complex
- lysosomal membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- GTPase activator activity
- small GTPase binding