BBS1 Gene - Bardet-Biedl Syndrome 1
Comprehensive genomic and clinical resource for BBS1, a core component of the BBSome complex involved in ciliary trafficking.
Gene Information Card
| Symbol | BBS1 |
|---|---|
| Full Name | Bardet-Biedl syndrome 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 582 ncbi.nlm.nih.gov/gene/582 |
| Ensembl ID | ENSG00000174483 |
| UniProt ID | Q8NFJ9 |
| OMIM ID | 209901 |
| HGNC ID | 966 |
| Aliases | BBS1L, FLJ23590, MGC16200 |
Description
BBS1 encodes a core component of the BBSome, a protein complex that mediates ciliary membrane trafficking and signaling. Mutations in BBS1 are a common cause of Bardet-Biedl syndrome, a pleiotropic ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal anomalies, and hypogonadism. The BBSome is essential for the transport of G protein-coupled receptors and other cargo into and out of primary cilia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bardet-Biedl syndrome 1 | Loss-of-function mutations impair BBSome assembly, disrupting ciliary transport of signaling receptors (e.g., melanocortin 4 receptor, rhodopsin). | OMIM #209901; ClinVar pathogenic variants |
| Retinitis pigmentosa (non-syndromic) | Hypomorphic BBS1 alleles can cause isolated retinal degeneration without full syndromic features. | ClinVar; PMID: 20683928 |
| Obesity (syndromic) | Impaired ciliary MC4R trafficking leads to hyperphagia and early-onset obesity. | OMIM; PMID: 23046567 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Kidney | 18.2 | Medium |
| Brain (cerebellum) | 15.7 | Medium |
| Retina | 22.1 | High |
| Adipose tissue | 12.3 | Medium |
| Liver | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 19.4 | Embryonic kidney; commonly used for BBSome studies |
| ARPE-19 | 24.7 | Retinal pigment epithelium; relevant for retinal phenotype |
| HeLa | 16.2 | Cervical carcinoma; moderate expression |
| HepG2 | 11.5 | Hepatocellular carcinoma; lower expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1169T>G (p.Met390Arg) | Missense | ~80% of BBS1 alleles in European cohorts | Disrupts BBSome assembly; reduced ciliary localization |
| c.1645C>T (p.Arg549*) | Nonsense | Rare | Premature truncation; loss of function |
| c.1135G>A (p.Glu379Lys) | Missense | Rare | Impaired BBSome stability; pathogenic |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production; complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Most BBS1 mutations (nonsense, frameshift, start loss) lead to complete or partial loss of BBSome function, causing ciliary trafficking defects.
Gain of Function (GOF)
No gain-of-function mutations reported for BBS1.
Dominant Negative (DN)
The p.Met390Arg missense variant may exert a dominant-negative effect by incorporating into the BBSome and impairing its function, though recessive inheritance is typical.
View complete mutation data：
Gene Ontology (GO)
Pathways
• BBSome-mediated ciliary trafficking (Reactome: R-HSA-5620912)
• Cargo trafficking to the primary cilium (Reactome: R-HSA-5620920)
• Hedgehog signaling (cilium-dependent)
Protein Summary
BBS1 is a 593-amino-acid protein that forms part of the BBSome, an octameric complex (BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9, BBIP10) that coats vesicles for ciliary entry. It contains a conserved N-terminal domain and a C-terminal coiled-coil region. The p.Met390Arg mutation is a hotspot in BBS1-associated Bardet-Biedl syndrome. BBS1 localizes to the basal body and ciliary transition zone, and its loss disrupts the retrieval of signaling receptors from the ciliary membrane.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BBS12 Knockout HEK293 Cell Line | EDJ-KQ12098 | Human | 166379 | Details Get a Quote |
| BBS10 Knockout HEK293 Cell Line | EDJ-KQ12520 | Human | 79738 | Details Get a Quote |
| BBS10 Knockout A-549 Cell Line | EDJ-KQ41507 | Human | 79738 | Details Get a Quote |
| BBS10 Knockout HCT 116 Cell Line | EDJ-KQ41508 | Human | 79738 | Details Get a Quote |
| BBS10 Knockout HeLa Cell Line | EDJ-KQ41509 | Human | 79738 | Details Get a Quote |
| BBS12 Knockout A-549 Cell Line | EDJ-KQ39513 | Human | 166379 | Details Get a Quote |
| BBS12 Knockout HCT 116 Cell Line | EDJ-KQ40770 | Human | 166379 | Details Get a Quote |
| BBS12 Knockout HeLa Cell Line | EDJ-KQ40771 | Human | 166379 | Details Get a Quote |
| BBS1 Knockout HEK293 Cell Line | EDJ-KQ50150 | Human | 582 | Details Get a Quote |
| BBS1 Knockout HeLa Cell Line | EDJ-KQ52709 | Human | 582 | Details Get a Quote |
| BBS1 Knockout A-549 Cell Line | EDJ-KQ61180 | Human | 582 | Details Get a Quote |
| BBS1 Knockout HCT 116 Cell Line | EDJ-KQ69669 | Human | 582 | Details Get a Quote |
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