BBS9 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0060271Biological processcilium assembly
GO_0007601Biological processvisual perception
GO_0015031Biological processprotein transport
GO_0061512Biological processprotein localization to cilium
GO_0045444Biological processfat cell differentiation
GO_0060170Cellular componentciliary membrane
GO_0005929Cellular componentcilium
GO_0000242Cellular componentpericentriolar material
GO_0005829Cellular componentcytosol
GO_0035869Cellular componentciliary transition zone
GO_0034464Cellular componentBBSome
GO_0034451Cellular componentcentriolar satellite
GO_0016020Cellular componentmembrane
GO_0005515Molecular functionprotein binding
GO_0003674Molecular functionmolecular_function

IV. Literature review

[source]
Gene nameBBS9
Protein nameProtein PTHB1 (Bardet-Biedl syndrome 9 protein) (Parathyroid hormone-responsive B1 gene protein)
Bardet-Biedl syndrome 9
SynonymsPTHB1
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. Required for proper BBSome complex assembly and its ciliary localization. .

AccessionsA0A5F9ZGX9
A0A5F9ZH06
ENST00000673056.1
ENST00000671952.1
ENST00000242067.11 [Q3SYG4-1]
ENST00000432983.5
ENST00000671890.1
ENST00000434373.3
A0A5F9ZGY2
ENST00000672973.1
A0A5F9ZHP5
A0A5F9ZHE7
F8WCG5
ENST00000673219.1
ENST00000396127.6 [Q3SYG4-4]
ENST00000433714.5
ENST00000673431.1
ENST00000350941.7 [Q3SYG4-2]
ENST00000355070.6 [Q3SYG4-7]
A0A5F9ZH74
Q3SYG4
ENST00000425508.6 [Q3SYG4-5]
A0A5F9ZH37
C9JJ08
ENST00000673462.1 [Q3SYG4-6]
A0A5F9ZH14
H7BZ69
ENST00000672717.1 [Q3SYG4-4]
ENST00000671963.1
ENST00000671871.1