Bbs5 Gene Summary [Mouse]
Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity and phosphatidylinositol-3-phosphate binding activity. Predicted to be involved in cilium assembly and intracellular transport. Located in axoneme; centriolar satellite; and ciliary basal body. Part of BBSome. Is expressed in brain; spinal cord; and testis. Used to study Bardet-Biedl syndrome 5. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 5. Orthologous to human BBS5 (Bardet-Biedl syndrome 5). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Bbs5 |
| Official Name | Bardet-Biedl syndrome 5 (human) [Source:MGI Symbol;Acc:MGI:1919819] |
| Ensembl ID | ENSMUSG00000063145 |
| Bio databases IDs | |
| Aliases | Bardet-Biedl syndrome 5 (human) |
| Synonyms | 1700049I01Rik, 2700023J09Rik, Bardet-Biedl syndrome 5 |
| 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 Bbs5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Bardet-Biedl syndrome 5 protein
- transcription factor binding
- protein binding
- Pleckstrin homology-like domain
- Repeats in sea squirt COS41.4, worm R01H10.6, fly CG1126 etc
- phosphatidylinositol binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulated by
- TTC21B
- clopidogrel
disease
- Bardet-Biedl syndrome
- Bardet-Biedl syndrome type 5
- cone dystrophy
- Bardet-Biedl syndrome type 1
- ciliopathy
- retinal dystrophy
phenotypes
- abnormal bone structure
- abnormal gait
- abnormal retina morphology
- cardiovascular system phenotype
- decreased bone mineral content
- decreased bone mineral density
- decreased circulating bilirubin level
- decreased grip strength
- decreased heart rate variability
- decreased heart weight
- decreased lean body mass
- decreased respiratory quotient
- decreased spleen weight
- hypoactivity
- impaired glucose tolerance
- increased anxiety-related response
- increased basophil cell number
- increased circulating alanine transaminase level
- increased circulating alkaline phosphatase level
- increased circulating aspartate transaminase level
- increased circulating fructosamine level
- increased circulating glucose level
- increased fasting circulating glucose level
- increased hematocrit
- increased hemoglobin content
- increased leukocyte cell number
- increased mean corpuscular volume
- increased monocyte cell number
- increased total body fat amount
- short tibia
- thrombocytopenia
- tremors
- abnormal PR interval
- abnormal adipose tissue amount
- abnormal bone mineral density
- abnormal bone mineralization
- abnormal circulating alanine transaminase level
- abnormal circulating aspartate transaminase level
- abnormal circulating glucose level
- abnormal circulating triglyceride level
- abnormal fasting circulating glucose level
- abnormal glucose tolerance
- abnormal grip strength
- abnormal heart weight
- abnormal hematocrit
- abnormal hemoglobin content
- abnormal lean body mass
- abnormal mean corpuscular volume
- abnormal tibia morphology
- decreased dendritic spine density
- decreased dendritic spine length
role in cell
- 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.
- Cytoplasm
- cilia
- basal bodies
- centrosome
- axonemes
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Bbs5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- intracellular transport
- protein transport
- heart looping
- motile cilium assembly
- visual perception
- melanosome transport
Cellular Component
Where in the cell the gene product is active
- BBSome
- cilium basal body
- centriolar satellite
- cytosol
- cilium membrane
- axoneme
Molecular Function
What the gene product does at the molecular level
- protein binding
- phosphatidylinositol-3-phosphate binding