BBS1 Gene Summary [Human]
Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | BBS1 |
| Official Name | Bardet-Biedl syndrome 1 [Source:HGNC Symbol;Acc:HGNC:966] |
| Ensembl ID | ENSG00000174483 |
| Bio databases IDs | |
| Aliases | Bardet-Biedl syndrome 1 |
| Synonyms | AI451249, Bardet-Biedl syndrome 1, BBS2L2, D19Ertd609e |
| 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 BBS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- smoothened binding
- phosphoprotein binding
- transcription factor binding
- protein binding
- receptor binding
- Ciliary BBSome complex subunit 1
- patched binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Bardet-Biedl syndrome type 1
- Bardet-Biedl syndrome
- weight gain
- obesity
- retinal dystrophy
- digenic Bardet-Biedl syndrome 1/7
- ciliopathy
- retinitis pigmentosa
- impaired glucose tolerance
- cholesteatoma
role in cell
- phosphorylation in
- migration
- proliferation
- quantity
- morphology
- morphogenesis
- organization
- stabilization
- maintenance
- assembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- motile cilia
- Cytoplasm
- cilia
- basal bodies
- centrosome
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BBS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- photoreceptor cell morphogenesis
- neural precursor cell proliferation
- regulation of cilium beat frequency involved in ciliary motility
- fertilization
- Golgi to plasma membrane protein transport
- cellular lipid metabolic process
- hippocampus development
- brain morphogenesis
- striatum development
- microtubule cytoskeleton organization
- cerebral cortex development
- fat cell differentiation
- visual perception
- olfactory behavior
- hormone metabolic process
- ventricular system development
- neuron migration
- photoreceptor cell maintenance
- sensory perception of smell
- adult behavior
- cartilage development
- dendrite development
Cellular Component
Where in the cell the gene product is active
- centrosome
- motile cilium
- BBSome
- centriolar satellite
- cytosol
- cilium membrane
- axoneme
Molecular Function
What the gene product does at the molecular level
- protein binding
- smoothened binding
- phosphoprotein binding
- patched binding