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Tbio
BBS4
Bardet-Biedl syndrome 4 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. Required for microtubule anchoring at the centrosome but not ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000268057
  • ENSP00000268057
  • ENSG00000140463
  • ENST00000395205
  • ENSP00000378631
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
0.98
histone modification site profile
0.9
kinase perturbation
0.84
disease perturbation
0.74
cellular component
0.73


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
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
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 52.11   (req: < 5)
Gene RIFs: 15   (req: <= 3)
Antibodies: 263   (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: 52.11   (req: >= 5)
Gene RIFs: 15   (req: > 3)
Antibodies: 263   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 53
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
GWAS Traits (3)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
body mass index
2
2
2
92.1
waist-hip ratio
1
1
1
57.1
triglyceride measurement
1
1
1
25.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
body mass index
2
92.1
waist-hip ratio
1
57.1
triglyceride measurement
1
25.8
Orthologs (15)
1 – 5 of 15
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
Bardet-Biedl syndrome 4
453726
Macaque
Bardet-Biedl syndrome 4
704508
Mouse
MGI:2143311
102774
Rat
RGD:1309134
300754
Dog
Bardet-Biedl syndrome 4
487634
Species
Name
OMA
EggNOG
Inparanoid
Chimp
Bardet-Biedl syndrome 4
Macaque
Bardet-Biedl syndrome 4
Mouse
Rat
Dog
Bardet-Biedl syndrome 4
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q96RK4-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (121)
BBSome-mediated cargo-targeting to cilium (R-HSA-5620922)

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

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
Gene Ontology Terms (69)
Items per page:
10
1 – 5 of 5
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Physical Interaction (IPI)
MGI
Inferred from Mutant Phenotype (IMP)
UniProtKB
Protein-Protein Interactions (131)
1 – 10 of 131
BBS5
Tbio
Novelty: 0.04208041
p_int: 0.999999955
p_ni: 4.5e-8
Score: 0.999
Data Source: BioPlex,STRINGDB
BBS1
Tbio
Novelty: 0.00939439
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: 0.999998505
p_ni: 0.000001495
Score: 0.997
Data Source: BioPlex,STRINGDB
LZTFL1
Tbio
Novelty: 0.10578428
p_int: 0.999994539
p_ni: 0.000005402
p_wrong: 5.9e-8
Score: 0.993
Data Source: BioPlex,STRINGDB
NME3
Tbio
Family: Kinase
Novelty: 0.05947052
p_int: 0.9999535
p_ni: 0.000046494
p_wrong: 6e-9
Score: 0.827
Data Source: BioPlex,STRINGDB
CCDC172
Tdark
Novelty: 4.18978102
p_int: 0.982320267
p_ni: 0.016193166
p_wrong: 0.001486567
Score: 0.199
Data Source: BioPlex,STRINGDB
BBS2
Tbio
Novelty: 0.00835161
Score: 0.995
Data Source: STRINGDB
BBS9
Tbio
Novelty: 0.01879869
Score: 0.991
Data Source: STRINGDB
BBS12
Tbio
Novelty: 0.06131428
Score: 0.983
Data Source: STRINGDB
RAB3IP
Tbio
Novelty: 0.04046982
Score: 0.979
Data Source: STRINGDB
Publication Statistics
PubMed Score  52.11

PubMed score by year
PubTator Score  30.55

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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