BBS9 Gene Summary [Human]
This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017]
Details
| Type | Protein Coding |
| Official Symbol | BBS9 |
| Official Name | Bardet-Biedl syndrome 9 [Source:HGNC Symbol;Acc:HGNC:30000] |
| Ensembl ID | ENSG00000122507 |
| Bio databases IDs | |
| Aliases | Bardet-Biedl syndrome 9, parathyroid hormone responsive B1 gene |
| Synonyms | AF263286, B1, Bardet-Biedl syndrome 9, C18, circBBS9, circRNA-BBS9, D1, E130103I17Rik, Image:5368562, PARATHYROID HORMONE-RESPONSIVE B1, PTHB1, RGD1308472 |
| 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 BBS9 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PTHB1 N-terminus
- PTHB1 C-terminus
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- dementia
- Bardet-Biedl syndrome
- Bardet-Biedl syndrome type 9
- retinal dystrophy
- open-angle glaucoma
- retinitis pigmentosa
- acute kidney injury
- idiopathic scoliosis
- isolated sagittal craniosynostosis
- Bardet-Biedl syndrome type 1
regulates
- adhesion molecule
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.
- Extracellular Space
- ciliary transition zone
- Cytoplasm
- cilia
- cellular membrane
- basal bodies
- centrosome
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BBS9 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- protein transport
- fat cell differentiation
- visual perception
Cellular Component
Where in the cell the gene product is active
- pericentriolar material
- BBSome
- centriolar satellite
- membrane
- cilium
- cytosol
- cilium membrane
- ciliary transition zone
Molecular Function
What the gene product does at the molecular level
- protein binding