Bbs1 Gene Summary [Mouse]
Enables phosphoprotein binding activity and signaling receptor binding activity. Involved in cilium assembly; fat cell differentiation; and regulation of cilium beat frequency involved in ciliary motility. Acts upstream of or within several processes, including nervous system development; non-motile cilium assembly; and olfactory behavior. Located in centriolar satellite and motile cilium. Part of BBSome. Is expressed in central nervous system; metanephros; and retina. Used to study Bardet-Biedl syndrome 1 and obesity. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 1. Orthologous to human BBS1 (Bardet-Biedl syndrome 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Bbs1 |
| Official Name | Bardet-Biedl syndrome 1 (human) [Source:MGI Symbol;Acc:MGI:1277215] |
| Ensembl ID | ENSMUSG00000006464 |
| Bio databases IDs | |
| Aliases | Bardet-Biedl syndrome 1 (human) |
| Synonyms | AI451249, Bardet-Biedl syndrome 1, BBS2L2, D19Ertd609e |
| Species | Mouse, Mus musculus |
| 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 mouse 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
phenotypes
- abnormal blood vessel morphology
- abnormal eye morphology
- abnormal head shape
- abnormal heart morphology
- abnormal placenta morphology
- abnormal placenta vasculature
- anophthalmia
- preweaning lethality complete penetrance
- shortened QRS complex duration
- small heart
- abnormal cone electrophysiology
- abnormal ependyma motile cilium morphology
- abnormal eye electrophysiology
- abnormal fat pad morphology
- abnormal neuronal precursor proliferation
- abnormal olfactory epithelium cilium morphology
- abnormal olfactory sensory neuron morphology
- abnormal orientation of outer hair cell stereociliary bundles
- abnormal outer hair cell stereociliary bundle morphology
- abnormal photoreceptor outer segment morphology
- abnormal retinal photoreceptor morphology
- abnormal rod electrophysiology
- absent sperm flagellum
- decreased aggression towards mice
- decreased birth body size
- decreased dendritic spine density
- decreased striatum size
- dilated brain ventricles
- dilated lateral ventricles
- disorganized photoreceptor inner segment
- disorganized photoreceptor outer segment
- embryonic lethality during organogenesis incomplete penetrance
- enlarged lateral ventricles
- enlarged third ventricle
- hydrocephaly
- hypoactivity
- impaired olfaction
- increased brown adipose tissue amount
- increased circulating leptin level
- increased food intake
- increased heart rate
- increased neuron apoptosis
- increased total body fat amount
- male infertility
- obese
- photoreceptor inner segment degeneration
- retinal degeneration
- retinal outer nuclear layer degeneration
- small hippocampus
- thin cerebral cortex
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 mouse 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