BBS1 report

I. Expression across cell types

Insufficient scRNA-seq data for expression of BBS1 at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of BBS1 at tissue level.

III. Associated gene sets

GO_1905515Biological processnon-motile cilium assembly
GO_0060271Biological processcilium assembly
GO_0007601Biological processvisual perception
GO_0061512Biological processprotein localization to cilium
GO_0060296Biological processregulation of cilium beat frequency involved in ciliary motility
GO_0021766Biological processhippocampus development
GO_0008594Biological processphotoreceptor cell morphogenesis
GO_0045494Biological processphotoreceptor cell maintenance
GO_0061351Biological processneural precursor cell proliferation
GO_0001764Biological processneuron migration
GO_0007608Biological processsensory perception of smell
GO_0021756Biological processstriatum development
GO_0044255Biological processcellular lipid metabolic process
GO_0021591Biological processventricular system development
GO_0009566Biological processfertilization
GO_0042048Biological processolfactory behavior
GO_0000226Biological processmicrotubule cytoskeleton organization
GO_0030534Biological processadult behavior
GO_0048854Biological processbrain morphogenesis
GO_0021987Biological processcerebral cortex development
GO_0043001Biological processGolgi to plasma membrane protein transport
GO_0016358Biological processdendrite development
GO_0051216Biological processcartilage development
GO_0042445Biological processhormone metabolic process
GO_0045444Biological processfat cell differentiation
GO_0034451Cellular componentcentriolar satellite
GO_0034464Cellular componentBBSome
GO_0005813Cellular componentcentrosome
GO_0031514Cellular componentmotile cilium
GO_0005930Cellular componentaxoneme
GO_0060170Cellular componentciliary membrane
GO_0005829Cellular componentcytosol
GO_0005119Molecular functionsmoothened binding
GO_0061629Molecular functionRNA polymerase II-specific DNA-binding transcription factor binding
GO_0005113Molecular functionpatched binding
GO_0051219Molecular functionphosphoprotein binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameBBS1
Protein nameBardet-Biedl syndrome 1
Bardet-Biedl syndrome 1 protein
Bardet-Biedl syndrome 1 protein (BBS2-like protein 2)
BBS1 protein
SynonymsBBS2L2
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 . Plays a role in olfactory cilium biogenesis/maintenance and trafficking (By similarity). .

AccessionsQ4G0L2
E9PR55
Q8NFJ9
ENST00000527251.5
ENST00000630659.2
ENST00000524458.5
E9PQK2
ENST00000533557.5
E9PPR3
E9PQD9
ENST00000526760.5
E9PJ28
ENST00000526815.5
ENST00000533644.5
ENST00000532908.5
ENST00000525809.5
E9PMB7
A0A077QWU1
E7EQH1
ENST00000455748.6
ENST00000524705.2
ENST00000393994.4 [Q8NFJ9-3]
ENST00000526035.5
ENST00000318312.12 [Q8NFJ9-1]