# Bardet-Biedl syndrome 1 (human)

> mammalian protein found in Mus musculus

**Wikidata**: [Q29530063](https://www.wikidata.org/wiki/Q29530063)  
**Source**: https://4ort.xyz/entity/bardet-biedl-syndrome-1-human-


## References

1. UniProt
2. [InterPro Release 71.0](http://www.ebi.ac.uk/interpro/protein/Q3V3N7)
3. Q20641742
4. [Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7)
5. [GOA](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7)
6. [Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7)
7. [DJ-1 enhances cell survival through the binding of Cezanne, a negative regulator of NF-kappaB](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7)
8. [DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7)
9. [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:Q3V3N7)
10. [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:Q3V3N7)
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:Q3V3N7)
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:Q3V3N7)
13. [DISC1-dependent switch from progenitor proliferation to migration in the developing cortex](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7)
14. [GOA](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q3V3N7&geneProductId=UniProtKB:Q3V3N7)
15. [DISC1-dependent switch from progenitor proliferation to migration in the developing cortex](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q3V3N7&geneProductId=UniProtKB:Q3V3N7)
16. [Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7)
17. [BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q3V3N7&geneProductId=UniProtKB:Q3V3N7)
18. [A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q3V3N7&geneProductId=UniProtKB:Q3V3N7)
19. [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?protein=Q3V3N7&geneProductId=UniProtKB:Q3V3N7)
20. [The BBSome controls IFT assembly and turnaround in cilia](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7)
21. [A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7)
22. [Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7)
23. [BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7)
24. [A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7)
25. [Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7)
26. [Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7)
27. [Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7)
28. [Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q3V3N7)
29. ensembl Release 95