General Information:

Id: 5,860
Diseases: Diabetes mellitus, type II - [OMIM]
Insulin resistance
Mus musculus
article
Reference: Zhang Q et al.(2012) BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes Hum. Mol. Genet. 21: 1945-1953 [PMID: 22228099]

Interaction Information:

Comment The BBSome regulates Smo ciliary localization and Shh signaling. Loss of BBS7 increases the basal level of Smo in cilia, perhaps by affecting Smo retrograde transport out of cilia. Similar results are obtained using MEF cells from Bbs1(M390R/M390R) knockin, Bbs2-/- and Bbs4-/-.
Formal Description
Interaction-ID: 55361

complex/PPI

BBSome

affects_quantity of

gene/protein

SMO

in primary cilium
Drugbank entries Show/Hide entries for SMO
Comment To determine whether the increased ciliary localization of Smo activates the Shh pathway, the expression of Gli1 and Ptch1 was analyzed, two genes whose expressions are upregulated when the Shh pathway is activated. The increased ciliary localization of Smo in the absence of normal BBS genes results in a 20– 30% decrease in Shh pathway activation in MEF cells. These results are consistent with the notion that ciliary localized Smo has two states: inactive and active. Ciliary localization of Smo is not sufficient to activate the pathway. The BBSome may modulate the conversion of Smo from the inactive to the active state within cilia.
Formal Description
Interaction-ID: 55397

complex/PPI

BBSome

affects_activity of

gene/protein

SMO

Drugbank entries Show/Hide entries for SMO
Comment To determine whether the increased ciliary localization of Smo activates the Shh pathway, the expression of Gli1 and Ptch1 was analyzed, two genes whose expressions are upregulated when the Shh pathway is activated. The increased ciliary localization of Smo in the absence of normal BBS genes results in a 20– 30% decrease in Shh pathway activation in MEF cells. These results are consistent with the notion that ciliary localized Smo has two states: inactive and active. Ciliary localization of Smo is not sufficient to activate the pathway. The BBSome may modulate the conversion of Smo from the inactive to the active state within cilia.
Formal Description
Interaction-ID: 55398

complex/PPI

BBSome

affects_activity of

Comment The BBSome interacts with Smo. Full-length Smo interacts with several BBSome subunits with BBS1 showing the strongest interaction.
Formal Description
Interaction-ID: 55399

complex/PPI

BBSome

interacts (colocalizes) with

gene/protein

SMO

Drugbank entries Show/Hide entries for SMO
Comment Ptch1, another membrane protein of the hedgehog pathway, is a hedgehog receptor and localizes to the cilia. The BBSome regulates Ptch1 ciliary localization.
Formal Description
Interaction-ID: 55400

complex/PPI

BBSome

affects_quantity of

gene/protein

PTCH1

in primary cilium