TBC1D32 Gene Summary [Human]
This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts with and stabilizes cell cycle-related kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Details
| Type | Processed Transcript |
| Official Symbol | TBC1D32 |
| Official Name | TBC1 domain family member 32 [Source:HGNC Symbol;Acc:HGNC:21485] |
| Ensembl ID | ENSG00000146350 |
| Bio databases IDs | |
| Aliases | TBC1 domain family member 32, broad-minded homolog |
| Synonyms | b2b2284Clo, BROMI, C6orf170, C6orf171, D630037F22Rik, TBC1 domain family member 32, TBC1 domain family, member 32 |
| 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 TBC1D32 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
- 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
- retinitis pigmentosa
- congenital heart disease
- Joubert syndrome type 36
- hereditary disorder
- orofaciodigital syndrome type 9
- ciliopathy
regulated by
role in cell
- binding in
- cell viability
- assembly
- length
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- cellular membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TBC1D32 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- heart development
- kidney development
- retinal pigment epithelium development
- palate development
- lens development in camera-type eye
- determination of left/right symmetry
- smoothened signaling pathway involved in dorsal/ventral neural tube patterning
- embryonic digit morphogenesis
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- cilium
Molecular Function
What the gene product does at the molecular level
- protein binding