TTC8 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_1905515Biological processnon-motile cilium assembly
GO_0060271Biological processcilium assembly
GO_0045198Biological processestablishment of epithelial cell apical/basal polarity
GO_0072659Biological processprotein localization to plasma membrane
GO_0045444Biological processfat cell differentiation
GO_0032880Biological processregulation of protein localization
GO_0035264Biological processmulticellular organism growth
GO_0060122Biological processinner ear receptor cell stereocilium organization
GO_0007608Biological processsensory perception of smell
GO_0021772Biological processolfactory bulb development
GO_0050893Biological processsensory processing
GO_0061326Biological processrenal tubule development
GO_1903251Biological processmulti-ciliated epithelial cell differentiation
GO_0001736Biological processestablishment of planar polarity
GO_0051492Biological processregulation of stress fiber assembly
GO_0015031Biological processprotein transport
GO_0060219Biological processcamera-type eye photoreceptor cell differentiation
GO_0007411Biological processaxon guidance
GO_0048560Biological processestablishment of anatomical structure orientation
GO_0032391Cellular componentphotoreceptor connecting cilium
GO_0034451Cellular componentcentriolar satellite
GO_0034464Cellular componentBBSome
GO_0005813Cellular componentcentrosome
GO_0060170Cellular componentciliary membrane
GO_0097730Cellular componentnon-motile cilium
GO_0005929Cellular componentcilium
GO_0005829Cellular componentcytosol
GO_0036064Cellular componentciliary basal body
GO_0061629Molecular functionRNA polymerase II-specific DNA-binding transcription factor binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameTTC8
Protein nameTetratricopeptide repeat domain 8 isoform 5
Full-length cDNA clone CS0DA007YG23 of Neuroblastoma of Homo sapiens (human) (Tetratricopeptide repeat domain 8)
Tetratricopeptide repeat domain 8, isoform CRA_a (cDNA FLJ36572 fis, clone TRACH2012298, highly similar to Tetratricopeptide repeat protein 8)
Tetratricopeptide repeat domain 8 (Tetratricopeptide repeat domain 8, isoform CRA_c)
Tetratricopeptide repeat domain 8 (Tetratricopeptide repeat domain 8, isoform CRA_g)
Tetratricopeptide repeat domain 8
Tetratricopeptide repeat domain 8 isoform 6
Tetratricopeptide repeat protein 8 (TPR repeat protein 8) (Bardet-Biedl syndrome 8 protein)
Tetratricopeptide repeat domain 8 isoform 4
SynonymsBBS8
hCG_21081
DescriptionFUNCTION: 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. .

AccessionsG3V2W6
Q86U25
A0A0S2Z625
B3KSL8
ENST00000346301.8
A0A0C4DGX9
ENST00000556651.5
Q8TAM2
ENST00000555057.5
G3V2Z9
ENST00000557580.3
ENST00000380656.7 [Q8TAM2-4]
ENST00000553718.1
H0YJQ3
ENST00000354441.10 [Q8TAM2-2]
ENST00000556077.5
ENST00000338104.10
A0A0S2Z5V9
A0A0S2Z666
ENST00000554686.5
ENST00000622513.4
G3V324
A0A0C4DGY3
H0YJX0
A0A0C4DGH8