Version 5.4
Mus musculus Protein: Bbs9
Summary
InnateDB Protein IDBP-534710.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Bbs9
Protein Name Bardet-Biedl syndrome 9 (human)
Synonyms
Species Mus musculus
Ensembl Protein ENSMUSP00000122058
InnateDB Gene IDBG-144106 (Bbs9)
Protein Structure
UniProt Annotation
Function The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for proper BBSome complex assembly and its ciliary localization (By similarity). {ECO:0000250}.
Subcellular Localization Cell projection, cilium membrane {ECO:0000250}. Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000250}.
Disease Associations
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 11 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0015031 protein transport
GO:0042384 cilium assembly
GO:0045444 fat cell differentiation
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0034464 BBSome
GO:0036064 ciliary basal body
GO:0060170 ciliary membrane
Protein Structure and Domains
PDB ID MGI:2442833
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q811G0
PhosphoSite PhosphoSite-Q811G0
TrEMBL D3Z6T1
UniProt Splice Variant
Entrez Gene 319845
UniGene Mm.176725
RefSeq XP_006510480
MGI ID
MGI Symbol Bbs9
OMIM
CCDS CCDS22928
HPRD
IMGT
EMBL AC093926 AC113106 AC113127 AC164882 AK053503 AK144730 BC030419 BC046426 BC054441 U85993
GenPept AAB61920 AAH30419 AAH46426 AAH54441 BAC35408 BAE26036

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca