BBIP1 Gene Summary [Human]
This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Details
| Type | Protein Coding |
| Official Symbol | BBIP1 |
| Official Name | BBSome interacting protein 1 [Source:HGNC Symbol;Acc:HGNC:28093] |
| Ensembl ID | ENSG00000214413 |
| Bio databases IDs | |
| Aliases | BBSome interacting protein 1 |
| Synonyms | 2310002J21Rik, 2610002B11Rik, 4930560M04Rik, bA348N5.3, BBIP10, BBS18, BBSome interacting protein 1, NCRNA00081 |
| 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 BBIP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Cilia BBSome complex subunit 10
- 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
- cilia
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BBIP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- protein transport
- eating behavior
Cellular Component
Where in the cell the gene product is active
- BBSome
- cytoplasm
- cytosol
- cilium membrane
Molecular Function
What the gene product does at the molecular level
- protein binding