Tdark BBIP1 BBSome-interacting protein 1

Protein Summary

Description

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. This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

Uniprot Accession IDs

• A8MTZ0
• E9PIY9
• E9PM41
• E9PRI7

Gene Name

• BBIP1

Ensembl ID

• ENST00000423273
• ENSP00000432274
• ENSG00000214413
• ENST00000436562
• ENSP00000431936
• ENST00000447005
• ENSP00000432849
• ENST00000448814
• ENSP00000436622
• ENST00000454061
• ENSP00000433157
• ENST00000605742
• ENSP00000474675

Symbol

• BBIP10
• NCRNA00081
• BBS18
• BBIP10
• bA348N5.3
• NCRNA00081

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
histone modification site profile	0.81
transcription factor	0.67
transcription factor binding site profile	0.63
tissue	0.6
microRNA	0.59

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 3.03   (req: < 5)

Gene RIFs: 1   (req: <= 3)

Antibodies: 31   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 3.03   (req: >= 5)

Gene RIFs: 1   (req: > 3)

Antibodies: 31   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 3

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0