BBIP1 Gene - BBSome Interacting Protein 1
Essential Ciliary Protein Involved in Bardet-Biedl Syndrome and Primary Cilia Assembly
Gene Information Card
| Symbol | BBIP1 |
|---|---|
| Full Name | BBSome Interacting Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q25.2 |
| NCBI Gene ID | 92482 ncbi.nlm.nih.gov/gene/92482 |
| Ensembl ID | ENSG00000119912 |
| UniProt ID | Q8N6M6 |
| OMIM ID | 613605 |
| HGNC ID | 28093 |
| Aliases | BBIP10, BBS18, FLJ12640, MGC13170 |
Description
BBIP1 (BBSome Interacting Protein 1) encodes a protein that is a core component of the BBSome complex, which is essential for ciliary membrane trafficking and primary cilia assembly. Mutations in BBIP1 cause Bardet-Biedl syndrome type 18 (BBS18), a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal anomalies, and cognitive impairment. The protein localizes to the basal body and ciliary axoneme, interacting with other BBSome subunits to regulate ciliary function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bardet-Biedl syndrome 18 (BBS18) | Loss-of-function mutations disrupt BBSome assembly, impairing ciliary transport and signaling | OMIM #615995; ClinVar pathogenic variants |
| Retinitis pigmentosa | Defective ciliary trafficking in photoreceptor cells leads to progressive retinal degeneration | Case reports in BBS18 patients |
| Obesity | Impaired ciliary signaling in hypothalamic neurons affects energy homeostasis | Common feature of BBS18; supported by mouse models |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Kidney | 12.8 | Medium |
| Brain | 10.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression; used in functional studies |
| HeLa | 12.1 | Moderate expression; ciliary localization confirmed |
| ARPE-19 | 9.8 | Retinal pigment epithelium; relevant to BBS phenotype |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1?) | Missense/start loss | Rare | Loss of protein expression; pathogenic in BBS18 |
| c.97C>T (p.Arg33*) | Nonsense | Rare | Premature truncation; loss of BBSome interaction |
| c.349_350delAG (p.Arg117Glufs*5) | Frameshift deletion | Rare | Loss of function; reported in BBS18 families |
Mutation functional classification
Loss of Function (LOF)
Most reported BBIP1 mutations are loss-of-function (nonsense, frameshift, start loss), leading to truncated or absent protein, disrupting BBSome integrity and ciliary function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for BBIP1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized; BBIP1-associated BBS is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • Cilium assembly | • BBSome complex |
| • Protein transport | • Intracellular protein transport |
| • Cell projection organization | • Ciliary basal body |
Pathways
• Ciliopathy (Bardet-Biedl syndrome)
• BBSome-mediated ciliary trafficking
• Primary cilium assembly
Protein Summary
BBIP1 is a 317-amino acid protein that forms part of the BBSome, a complex of eight proteins (BBS1-9, BBIP1) that mediates ciliary membrane protein trafficking. It localizes to the basal body and ciliary axoneme, interacting directly with BBS4 and BBS8. Loss of BBIP1 disrupts BBSome assembly, leading to defective ciliogenesis and impaired signaling pathways (e.g., Sonic hedgehog). The protein is highly conserved in ciliated eukaryotes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BBIP1 Knockout HEK293 Cell Line | EDJ-KQ10945 | Human | 92482 | Details Get a Quote |
| BBIP1 Knockout HCT 116 Cell Line | EDJ-KQ37435 | Human | 92482 | Details Get a Quote |
| BBIP1 Knockout A-549 Cell Line | EDJ-KQ38742 | Human | 92482 | Details Get a Quote |
| BBIP1 Knockout HeLa Cell Line | EDJ-KQ38743 | Human | 92482 | Details Get a Quote |
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