DISEASES

Disease-gene associations mined from literature

Literature associating GPR161 and Joubert syndrome 32

GPR161 [ENSP00000441039]

G-protein coupled receptor 161; Key negative regulator of Shh signaling, which promotes the processing of GLI3 into GLI3R during neural tube development. Recruited by TULP3 and the IFT-A complex to primary cilia and acts as a regulator of the PKA-dependent basal repression machinery in Shh signaling by increasing cAMP levels, leading to promote the PKA-dependent processing of GLI3 into GLI3R and repress the Shh signaling. In presence of SHH, it is removed from primary cilia and is internalized into recycling endosomes, preventing its activity and allowing activation of the Shh signaling. Its ligand is unknown (By similarity).

Synonyms:  GPR161,  GPR161p,  hGPR161,  A0A0A0MQW8,  Q8N6U8 ...

Linkouts:  STRING  Pharos  UniProt