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 for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome. This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

Uniprot Accession IDs

• Q96RK4
• B4E178
• Q53DZ5
• Q8NHU9
• Q96H45

Gene Name

• BBS4

Ensembl ID

• ENST00000268057
• ENSP00000268057
• ENSG00000140463
• ENST00000395205
• ENSP00000378631

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

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GENEVA

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ARCHS4

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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)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
body mass index	EFO_0004340	2	2	2		92.1
waist-hip ratio	EFO_0004343	1	1	1		57.1
triglyceride measurement	EFO_0004530	1	1	1		25.8

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
body mass index	EFO_0004340	2		92.1
waist-hip ratio	EFO_0004343	1		57.1
triglyceride measurement	EFO_0004530	1		25.8

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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	Bardet-Biedl syndrome 4 (human)	MGI:2143311	102774
Rat	Bardet-Biedl syndrome 4	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	Bardet-Biedl syndrome 4 (human)
Rat	Bardet-Biedl syndrome 4
Dog	Bardet-Biedl syndrome 4

Protein Structure (0 Structures, 1 AlphaFold Model)

Representation

  axes   backbone   ball+stick   cartoon   rocket   rope   spacefill

Color Scheme

  target   atomindex   bfactor   chainname   electrostatic   element   hydrophobicity   resname   sstruc

AF-Q96RK4-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (121)

Reactome (4)

WikiPathways (117)

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

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	BBSome-mediated cargo-targeting to cilium	23 targets	R-HSA-5620922
Reactome	Cargo trafficking to the periciliary membrane	51 targets	R-HSA-5620920
Reactome	Cilium Assembly	187 targets	R-HSA-5617833
Reactome	Organelle biogenesis and maintenance	276 targets	R-HSA-1852241

Name	Explore in Pharos	Explore in Source
BBSome-mediated cargo-targeting to cilium	23 targets	R-HSA-5620922
Cargo trafficking to the periciliary membrane	51 targets	R-HSA-5620920
Cilium Assembly	187 targets	R-HSA-5617833
Organelle biogenesis and maintenance	276 targets	R-HSA-1852241

Gene Ontology Terms (69)

Functions (5)

Components (16)

Processes (48)

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GO Term	Evidence	Assigned by
alpha-tubulin binding	Inferred from Direct Assay (IDA)	BHF-UCL
beta-tubulin binding	Inferred from Direct Assay (IDA)	BHF-UCL
dynactin binding	Inferred from Direct Assay (IDA)	BHF-UCL
RNA polymerase II repressing transcription factor binding	Inferred from Physical Interaction (IPI)	MGI
microtubule motor activity	Inferred from Mutant Phenotype (IMP)	UniProtKB

Protein-Protein Interactions (131)

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1 – 10 of 131

• See Interactions on String-DB

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

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PubTator Score  30.55

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

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Find similar targets by:

UniProt Keyword Find Similar Targets

Alternative splicing
Bardet-Biedl syndrome
Cell membrane
Cell projection
Ciliopathy
Cilium
Cilium biogenesis/degradation
Complete proteome
Cytoplasm
Cytoskeleton

GWAS Trait Find Similar Targets

body mass index
triglyceride measurement
waist-hip ratio

MGI Phenotype Find Similar Targets

adipose tissue phenotype
behavior/neurological phenotype
cardiovascular system phenotype
cellular phenotype
craniofacial phenotype
digestive/alimentary phenotype
embryo phenotype
endocrine/exocrine gland phenotype
growth/size/body region phenotype
hearing/vestibular/ear phenotype