Tbck Gene Summary [Mouse]
Predicted to enable GTPase activator activity. Predicted to be involved in actin cytoskeleton organization; cell population proliferation; and regulation of TOR signaling. Predicted to be located in cytoplasm; midbody; and mitotic spindle. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; hemolymphoid system gland; and nervous system. Human ortholog(s) of this gene implicated in infantile hypotonia with psychomotor retardation and characteristic facies-3. Orthologous to human TBCK (TBC1 domain containing kinase). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Tbck |
| Official Name | TBC1 domain containing kinase [Source:MGI Symbol;Acc:MGI:2445052] |
| Ensembl ID | ENSMUSG00000028030 |
| Bio databases IDs | |
| Aliases | TBC1 domain containing kinase |
| Synonyms | 1700120J03RIK, 9430001M19, A630047E20Rik, C030007I09Rik, FERRY1, Fy-1, HSPC302, IHPRF3, MGC16169, RGD1307816, TBC1 domain containing kinase, TBCKL |
| 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 Tbck often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- Serine/Threonine protein kinases, catalytic domain
- protein serine/threonine kinase
- Rab-GTPase-TBC domain
- Protein Kinases, catalytic domain
- Rhodanese Homology Domain
- Domain in Tre-2, BUB2p, and Cdc16p
- protein binding
- Rhodanese-like domain
- RHOD
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- infantile hypotonia with psychomotor retardation and characteristic facies 3
- mental retardation
- hereditary disorder
- neurodevelopmental disorder
- syndromic infantile encephalopathy
- major depression
- global developmental delay
- syndromic complex neurodevelopmental disorder
- airway obstruction
regulates
role in cell
- proliferation
- organization
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
- midbody
- mitotic spindle
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Tbck gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell proliferation
- protein phosphorylation
- actin cytoskeleton organization
- regulation of TOR signaling cascade
Cellular Component
Where in the cell the gene product is active
- early endosome
- mitotic spindle
- cytoplasm
- midbody
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- GTPase activator activity
- protein kinase activity