AVPR1B Gene: Arginine Vasopressin Receptor 1B - Function, Mutations & Disease

The AVPR1B gene encodes the arginine vasopressin receptor 1B (V1b), a G-protein-coupled receptor that binds arginine vasopressin (AVP). It is primarily expressed in the anterior pituitary, where it mediates the release of adrenocorticotropic hormone (ACTH) in response to stress. The receptor also plays roles in the central nervous system, influencing social behavior, anxiety, and stress responses. Mutations in AVPR1B are associated with ACTH-independent Cushing disease and have been implicated in psychiatric conditions such as major depressive disorder and bipolar disorder.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Vasopressin signaling pathway (Reactome: R-HSA-388479)

• GPCR downstream signaling (Reactome: R-HSA-388396)

• Neuroactive ligand-receptor interaction (KEGG: hsa04080)

The arginine vasopressin receptor 1B (V1b) is a 424-amino acid protein with seven transmembrane domains. It is a class A rhodopsin-like GPCR that couples primarily to Gq/11, leading to phospholipase C activation and intracellular calcium mobilization. The receptor is critical for ACTH release from pituitary corticotrophs. Structural studies show that gain-of-function mutations in the transmembrane helices stabilize the active conformation, leading to ligand-independent signaling.