BTBD1 Gene Summary [Human]
The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | BTBD1 |
| Official Name | BTB domain containing 1 [Source:HGNC Symbol;Acc:HGNC:1120] |
| Ensembl ID | ENSG00000064726 |
| Bio databases IDs | |
| Aliases | BTB domain containing 1 |
| Synonyms | 1190005H08Rik, BTB domain containing 1, C15orf1, CTB73, NS5ATP8 |
| 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 BTBD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- BTB And C-terminal Kelch
- Broad-Complex, Tramtrack and Bric a brac
- PHR domain
- BTB_POZ
- BTB/POZ domain
- protein binding
- BACK (BTB and C-terminal Kelch) domain
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- cytoplasmic ribonucleoprotein granule
- cytoplasmic mRNA processing body
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BTBD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle organ development
- regulation of protein binding
- neurogenesis
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- cytoplasmic mRNA processing body
- cytosol
- macromolecular complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding