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GPR161

Function

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).

Involvement in disease

Medulloblastoma

MDB

Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.

None

Disease susceptibility may be associated with variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the G-protein coupled receptor 1 family.

Cellular localization

Alternative names

G-protein coupled receptor 161, G-protein coupled receptor RE2, GPR161

swissprot:Q8N6U8 entrezGene:23432 omim:612250