# Bardet-Biedl syndrome 1

> mammalian protein found in Homo sapiens

**Wikidata**: [Q21112592](https://www.wikidata.org/wiki/Q21112592)  
**Source**: https://4ort.xyz/entity/bardet-biedl-syndrome-1


## References

1. UniProt
2. [InterPro Release 71.0](http://www.ebi.ac.uk/interpro/protein/Q8NFJ9)
3. Q20641742
4. [BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q8NFJ9&geneProductId=UniProtKB:Q8NFJ9)
5. [Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8NFJ9)
6. [Dissection of epistasis in oligogenic Bardet-Biedl syndrome](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8NFJ9)
7. [Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8NFJ9)
8. [Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8NFJ9)
9. [BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8NFJ9)
10. [The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8NFJ9)
11. [A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8NFJ9)
12. [Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8NFJ9)
13. [Protein interaction perturbation profiling at amino-acid resolution](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8NFJ9)
14. [Structural basis for membrane targeting of the BBSome by ARL6](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8NFJ9)
15. [Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8NFJ9)
16. [An organelle-specific protein landscape identifies novel diseases and molecular mechanisms](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8NFJ9)
17. [Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8NFJ9)
18. [Novel interaction partners of Bardet-Biedl syndrome proteins](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8NFJ9)
19. [BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8NFJ9)
20. [Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8NFJ9)
21. [GOA](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8NFJ9)
22. [Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q8NFJ9&geneProductId=UniProtKB:Q8NFJ9)
23. [GOA](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q8NFJ9&geneProductId=UniProtKB:Q8NFJ9)
24. [The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q8NFJ9&geneProductId=UniProtKB:Q8NFJ9)
25. [BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q8NFJ9&geneProductId=UniProtKB:Q8NFJ9)
26. [A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q8NFJ9&geneProductId=UniProtKB:Q8NFJ9)
27. [The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8NFJ9)
28. [Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8NFJ9)
29. [BBS mutations modify phenotypic expression of CEP290-related ciliopathies](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q8NFJ9&geneProductId=UniProtKB:Q8NFJ9)
30. [BBS mutations modify phenotypic expression of CEP290-related ciliopathies](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8NFJ9)
31. Ensembl Release 99
32. [Identifiers.org](https://registry.identifiers.org/registry/uniprot)