InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Bbs5

Summary

InnateDB Protein

IDBP-176909.6

Last Modified

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

Gene Symbol

Bbs5

Protein Name

Bardet-Biedl syndrome 5 (human)

Synonyms

1700049I01Rik; 2700023J09Rik;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000074494

InnateDB Gene

IDBG-176907 (Bbs5)

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, cilium basal body {ECO:0000269PubMed:15137946}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000250}. Note=Localizes to basal bodies.

Disease Associations

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession

GO Term

Biological Process

GO:0015031	protein transport
GO:0030030	cell projection organization

Cellular Component

GO:0005737	cytoplasm
GO:0034464	BBSome
GO:0036064	ciliary basal body
GO:0060170	ciliary membrane

Protein Structure and Domains

PDB ID

MGI:1919819

InterPro

IPR006606 Bardet-Biedl syndrome 5 protein
IPR014003 DM16 repeat

PFAM

PF07289

PRINTS

PIRSF

PIRSF010072

SMART

SM00683

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9CZQ9

PhosphoSite

PhosphoSite-

TrEMBL

UniProt Splice Variant

Entrez Gene

72569

UniGene

Mm.252136

RefSeq

NP_082560

MGI ID

MGI Symbol

Bbs5

OMIM

CCDS

CCDS16094

HPRD

IMGT

EMBL

AK012283 AL929083 BC061031

GenPept

AAH61031 BAB28141 CAM24291