Version 5.4
Homo sapiens Protein: BBIP1
Summary
InnateDB Protein IDBP-601467.2
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BBIP1
Protein Name BBSome interacting protein 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000436622
InnateDB Gene IDBG-233453 (BBIP1)
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 primary cilia assembly and BBSome stability. Regulates cytoplasmic microtubule stability and acetylation. {ECO:0000269Ref.4}.
Subcellular Localization Cell projection, cilium {ECO:0000269Ref.4}. Cytoplasm {ECO:0000269Ref.4}. Note=Localizes inside the primary cilium but not at centriolar satellites.
Disease Associations Bardet-Biedl syndrome 18 (BBS18) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early- onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269PubMed:24026985}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0015031 protein transport
GO:0042384 cilium assembly
Cellular Component
GO:0005737 cytoplasm
GO:0005929 cilium
GO:0034464 BBSome
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt A8MTZ0
PhosphoSite PhosphoSite-A8MTZ0
TrEMBL
UniProt Splice Variant
Entrez Gene 92482
UniGene Hs.721544
RefSeq NP_001182234
HUGO HGNC:28093
OMIM 613605
CCDS CCDS55727
HPRD
IMGT
EMBL AK307126 AK307314 AL158163 BC015550 BU189144 DA520878
GenPept

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) 

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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