TBC1D23 Gene Summary [Human]
Involved in brain development; retrograde transport, endosome to Golgi; and vesicle tethering to Golgi. Located in cytoplasmic vesicle and trans-Golgi network. Colocalizes with WASH complex. Implicated in pontocerebellar hypoplasia. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | TBC1D23 |
| Official Name | TBC1 domain family member 23 [Source:HGNC Symbol;Acc:HGNC:25622] |
| Ensembl ID | ENSG00000036054 |
| Bio databases IDs | |
| Aliases | TBC1 domain family member 23 |
| Synonyms | 4930451A13Rik, D030022P07RIK, NS4ATP1, PCH11, RGD1307925, TBC1 domain family member 23, TBC1 domain family, member 23 |
| 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 TBC1D23 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
- Rhodanese Homology Domain
- Domain in Tre-2, BUB2p, and Cdc16p
- C-terminal domain of TBC1 domain family member 23, and similar proteins
- 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
- pontocerebellar hypoplasia type 11
- hereditary disorder
- non-syndromic congenital pontocerebellar hypoplasia
role in cell
- morphogenesis
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
- Golgi Apparatus
- trans Golgi network
- cytoplasmic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TBC1D23 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- vesicle-mediated transport
- neuron projection development
- brain development
- retrograde transport, endosome to Golgi
Cellular Component
Where in the cell the gene product is active
- trans-Golgi network
- cytosol
- cytoplasmic vesicle
- Golgi apparatus
- WASH complex
Molecular Function
What the gene product does at the molecular level
- protein binding