InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Ttc8

Summary

InnateDB Protein

IDBP-163187.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Ttc8

Protein Name

tetratricopeptide repeat domain 8

Synonyms

0610012F22Rik; AV001447; BBS8;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000078148

InnateDB Gene

IDBG-163183 (Ttc8)

Protein Structure

UniProt Annotation

Function

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 (By similarity). {ECO:0000250}.

Subcellular Localization

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000250}. Cell projection, cilium membrane {ECO:0000250}. Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000250}.

Disease Associations

Tissue Specificity

Isoform 1 is retina-specific whereas isoform 2 is ubiquitously expressed. {ECO:0000269PubMed:20451172}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.

Experimentally validated
Total	10 [view]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	6 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001103	RNA polymerase II repressing transcription factor binding
GO:0005515	protein binding

Biological Process

GO:0007411	axon guidance
GO:0007608	sensory perception of smell
GO:0015031	protein transport
GO:0021772	olfactory bulb development
GO:0032880	regulation of protein localization
GO:0035058	nonmotile primary cilium assembly
GO:0035264	multicellular organism growth
GO:0042384	cilium assembly
GO:0045444	fat cell differentiation
GO:0048560	establishment of anatomical structure orientation
GO:0060219	camera-type eye photoreceptor cell differentiation
GO:0061326	renal tubule development

Cellular Component

GO:0005813	centrosome
GO:0005814	centriole
GO:0005929	cilium
GO:0032391	photoreceptor connecting cilium
GO:0034464	BBSome
GO:0036064	ciliary basal body
GO:0060170	ciliary membrane