TBCK Gene Summary [Human]
This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Details
| Type | Protein Coding |
| Official Symbol | TBCK |
| Official Name | TBC1 domain containing kinase [Source:HGNC Symbol;Acc:HGNC:28261] |
| Ensembl ID | ENSG00000145348 |
| 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 | 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 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 human 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