Tbio TTC8 Tetratricopeptide repeat protein 8

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. This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Uniprot Accession IDs

• Q8TAM2
• A6NFG2
• B3KWA5
• Q67B97
• Q86SY0
• Q86TV9
• Q86U26
• Q8NDH9
• Q96DG8
• TPR repeat protein 8

Gene Name

• TTC8

Ensembl ID

• ENST00000345383
• ENSP00000339486
• ENSG00000165533
• ENST00000354441
• ENSP00000346427
• ENST00000380656
• ENSP00000370031

Symbol

• BBS8
• BBS8
• RP51

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
histone modification site profile	0.89
cellular component	0.85
protein domain	0.85
cell line	0.66
cell type or tissue	0.65

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: 10.98   (req: < 5)

Gene RIFs: 7   (req: <= 3)

Antibodies: 204   (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: 10.98   (req: >= 5)

Gene RIFs: 7   (req: > 3)

Antibodies: 204   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

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

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

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Target Illumination GWAS Analytics (TIGA)

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GENEVA

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ARCHS4

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (112)

Explore Interacting Targets

1 – 10 of 112

• See Interactions on String-DB

BBS1

Tbio

Novelty:  0.00939439

p_int:  0.999999689

p_ni:  3.11e-7

Score:  0.997

Data Source:  BioPlex,STRINGDB

BBS5

Tbio

Novelty:  0.04208041

p_int:  0.999999463

p_ni:  5.17e-7

p_wrong:  2e-8

Score:  0.998

Data Source:  BioPlex,STRINGDB

LZTFL1

Tbio

Novelty:  0.10578428

p_int:  0.99992596

p_ni:  0.00007404

Score:  0.996

Data Source:  BioPlex,STRINGDB

BBS7

Tbio

Novelty:  0.03611111

p_int:  0.999831299

p_ni:  0.000168701

Score:  0.994

Data Source:  BioPlex,STRINGDB

NME3

Tbio

Family:  Kinase

Novelty:  0.05947052

p_int:  0.999740155

p_ni:  0.000259728

p_wrong:  1.18e-7

Score:  0.829

Data Source:  BioPlex,STRINGDB

CDC16

Tbio

Novelty:  0.00916715

p_int:  0.998241051

p_ni:  0.001714602

p_wrong:  0.000044348

Score:  0.409

Data Source:  BioPlex,STRINGDB

BBS2

Tbio

Novelty:  0.00835161

Score:  0.987

Data Source:  STRINGDB

BBS9

Tbio

Novelty:  0.01879869

Score:  0.986

Data Source:  STRINGDB

BBS12

Tbio

Novelty:  0.06131428

Score:  0.98

Data Source:  STRINGDB

BBIP1

Tdark

Novelty:  0.23840637

Score:  0.978

Data Source:  STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (7)

Reactome (4)

WikiPathways (3)

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

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (13)

Functions (1)

Components (7)

Processes (5)

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GO Term	Evidence	Assigned by
RNA polymerase II repressing transcription factor binding	Inferred from Physical Interaction (IPI)	MGI

Disease Associations ()

No disease associations found

GWAS Traits (4)

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1 – 4 of 4

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
self reported educational attainment	EFO_0004784	1	1	1		5.8
age at onset	EFO_0004847	1	1	0	6.2	5.3
Myopia	HP_0000545	1	1	0	6.2	5.3
refractive error measurement	EFO_0007814	1	1	0	6.2	5.3

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
self reported educational attainment	EFO_0004784	1		5.8
age at onset	EFO_0004847	0	6.2	5.3
Myopia	HP_0000545	0	6.2	5.3
refractive error measurement	EFO_0007814	0	6.2	5.3

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UniProt Keyword Find Similar Targets

No Header	No Header
Alternative splicing
Bardet-Biedl syndrome
Cell membrane
Cell projection
Ciliopathy
Cilium
Cilium biogenesis/degradation
Complete proteome
Cytoplasm
Cytoskeleton

GWAS Trait Find Similar Targets

No Header	No Header
age at onset
Myopia
refractive error measurement
self reported educational attainment

MGI Phenotype Find Similar Targets

No Header	No Header
cellular phenotype
craniofacial phenotype
growth/size/body region phenotype
mortality/aging
nervous system phenotype
renal/urinary system phenotype
respiratory system phenotype
taste/olfaction phenotype
vision/eye phenotype

IDG Resources

No IDG generated resources found

Orthologs (15)

1 – 5 of 15

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	tetratricopeptide repeat domain 8	VGNC:12404	467531
Macaque	tetratricopeptide repeat domain 8		694362
Mouse	tetratricopeptide repeat domain 8	MGI:1923510	76260
Rat	tetratricopeptide repeat domain 8	RGD:1307769	299246
Dog	tetratricopeptide repeat domain 8	VGNC:47963	480413

Species	Name	OMA	EggNOG	Inparanoid
Chimp	tetratricopeptide repeat domain 8
Macaque	tetratricopeptide repeat domain 8
Mouse	tetratricopeptide repeat domain 8
Rat	tetratricopeptide repeat domain 8
Dog	tetratricopeptide repeat domain 8

Publication Statistics

PubMed Score 10.98

PubMed score by year

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PubTator Score 14.32

PubTator score by year

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Related Publications

Text Mined References (24)

GeneRif Annotations (7)

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PMID	Year	Title