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Tbio
BBS1
Bardet-Biedl syndrome 1 protein

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. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization (PubMed:17574030, PubMed:22072986). Plays a role in olfactory ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000318312
  • ENSP00000317469
  • ENSG00000174483
  • ENST00000393994
  • ENSP00000377563

Symbol
  • BBS2L2
  • BBS2L2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
histone modification site profile
0.89
cell type or tissue
0.84
tissue
0.71
cellular component
0.69
disease perturbation
0.68


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: 114.63   (req: < 5)
Gene RIFs: 27   (req: <= 3)
Antibodies: 89   (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: 114.63   (req: >= 5)
Gene RIFs: 27   (req: > 3)
Antibodies: 89   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12
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
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (140)
BBS5
Tbio
Novelty:  0.04208041
p_int:  1
Score:  0.999
Data Source:  BioPlex,STRINGDB
BBS9
Tbio
Novelty:  0.01879869
p_int:  0.999999969
p_ni:  3.1e-8
Score:  0.999
Data Source:  BioPlex,STRINGDB
BBS4
Tbio
Novelty:  0.01825873
p_int:  0.999999909
p_ni:  5.8e-8
p_wrong:  3.3e-8
Score:  0.999
Data Source:  BioPlex,STRINGDB
BBS7
Tbio
Novelty:  0.03611111
p_int:  0.999999708
p_ni:  2.92e-7
Score:  0.998
Data Source:  BioPlex,STRINGDB
TTC8
Tbio
Novelty:  0.08520636
p_int:  0.999999689
p_ni:  3.11e-7
Score:  0.997
Data Source:  BioPlex,STRINGDB
DPP3
Tbio
Family:  Enzyme
Novelty:  0.00763153
p_int:  0.999864397
p_ni:  0.000135602
Score:  0.416
Data Source:  BioPlex,STRINGDB
BBS2
Tbio
Novelty:  0.00835161
p_int:  0.999853068
p_ni:  0.000146932
Score:  0.999
Data Source:  BioPlex,STRINGDB
IFT43
Tbio
Novelty:  0.00478274
p_int:  0.998250178
p_ni:  0.001749822
Score:  0.423
Data Source:  BioPlex,STRINGDB
KIF1BP
Tbio
Novelty:  0.03932922
p_int:  0.991174041
p_ni:  0.008825959
Data Source:  BioPlex
LZTFL1
Tbio
Novelty:  0.10578428
p_int:  0.982684677
p_ni:  0.017315323
Score:  0.996
Data Source:  BioPlex,STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (7)
BBSome-mediated cargo-targeting to cilium (R-HSA-5620922)

Click on a row in the table to change the structure displayed.

Find Similar Targets
Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
BBSome-mediated cargo-targeting to cilium
Reactome
Cargo trafficking to the periciliary membrane
Reactome
Cilium Assembly
Reactome
Organelle biogenesis and maintenance
Name
Explore in Pharos
Explore in Source
BBSome-mediated cargo-targeting to cilium
Cargo trafficking to the periciliary membrane
Cilium Assembly
Organelle biogenesis and maintenance
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (6)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
low density lipoprotein cholesterol measurement
2
2
2
65.7
apolipoprotein B measurement
1
1
1
53.7
BMI-adjusted hip circumference
1
1
1
28.1
BMI-adjusted waist circumference
1
1
1
12.2
risk-taking behaviour
1
1
1
1.9
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
low density lipoprotein cholesterol measurement
2
65.7
apolipoprotein B measurement
1
53.7
BMI-adjusted hip circumference
1
28.1
BMI-adjusted waist circumference
1
12.2
risk-taking behaviour
1
1.9
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs
No orthologs found
Publication Statistics
PubMed Score 114.63
PubMed score by year
PubTator Score 52.28
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title