TBC1D1 Gene Summary [Human]
TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008]
Details
| Type | Protein Coding |
| Official Symbol | TBC1D1 |
| Official Name | TBC1 domain family member 1 [Source:HGNC Symbol;Acc:HGNC:11578] |
| Ensembl ID | ENSG00000065882 |
| Bio databases IDs | |
| Aliases | TBC1 domain family member 1 |
| Synonyms | 1110062G02Rik, BUB2, LOC677502, mKIAA1108, Nob1, Nobq1, TBC, TBC1, TBC1 domain family member 1, TBC1 domain family, member 1 |
| 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 TBC1D1 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
- protein binding
- Pleckstrin homology-like domain
- Domain of unknown function (DUF3350)
Pathways
Biological processes and signaling networks where the TBC1D1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- acute myeloid leukemia
- obesity
- organismal death
- small vessel disease stroke
- amyotrophic lateral sclerosis
- diabetes mellitus
- clonal hematopoiesis
- periodontitis
role in cell
- accumulation in
- expression in
- proliferation
- formation
- accumulation
- degradation in
- migration
- consumption in
- activation in
- invasion by
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
- detergent resistant lipid raft fraction
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TBC1D1 gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- nucleus
Molecular Function
What the gene product does at the molecular level
- protein binding
- GTPase activator activity