InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Bbs7

Summary

InnateDB Protein

IDBP-265117.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Bbs7

Protein Name

Bardet-Biedl syndrome 7 (human)

Synonyms

8430406N16Rik;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000103791

InnateDB Gene

IDBG-138825 (Bbs7)

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. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for BBSome complex ciliary localization but not for the proper complex assembly (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 15 experimentally validated interaction(s) in this database.
They are also associated with 30 interaction(s) predicted by orthology.

Experimentally validated
Total	15 [view]
Protein-Protein	15 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	30 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001103	RNA polymerase II repressing transcription factor binding
GO:0005515	protein binding

Biological Process

GO:0001654	eye development
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0007224	smoothened signaling pathway
GO:0007420	brain development
GO:0007507	heart development
GO:0008104	protein localization
GO:0015031	protein transport
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0035058	nonmotile primary cilium assembly
GO:0045444	fat cell differentiation
GO:0060021	palate development
GO:0060173	limb development