BBS7 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_0007601Biological processvisual perception
GO_0007224Biological processsmoothened signaling pathway
GO_0046907Biological processintracellular transport
GO_0007368Biological processdetermination of left/right symmetry
GO_0001947Biological processheart looping
GO_0006357Biological processregulation of transcription by RNA polymerase II
GO_0032436Biological processpositive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO_0060173Biological processlimb development
GO_0032402Biological processmelanosome transport
GO_0001654Biological processeye development
GO_0051877Biological processpigment granule aggregation in cell center
GO_0007420Biological processbrain development
GO_0015031Biological processprotein transport
GO_0008104Biological processprotein localization
GO_1903929Biological processprimary palate development
GO_0048546Biological processdigestive tract morphogenesis
GO_0045444Biological processfat cell differentiation
GO_0034451Cellular componentcentriolar satellite
GO_0001750Cellular componentphotoreceptor outer segment
GO_0016020Cellular componentmembrane
GO_0034464Cellular componentBBSome
GO_0005813Cellular componentcentrosome
GO_0043005Cellular componentneuron projection
GO_0060170Cellular componentciliary membrane
GO_0005930Cellular componentaxoneme
GO_0005829Cellular componentcytosol
GO_0036064Cellular componentciliary basal body
GO_0005634Cellular componentnucleus
GO_0061629Molecular functionRNA polymerase II-specific DNA-binding transcription factor binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameBBS7
Protein nameBardet-Biedl syndrome 7
Bardet-Biedl syndrome 7 protein (BBS2-like protein 1)
SynonymsBBS2L1
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. .

AccessionsQ8IWZ6
H0Y973
ENST00000506636.1 [Q8IWZ6-2]
ENST00000264499.9 [Q8IWZ6-1]
ENST00000507814.5