GNB3 cDNA Clone – Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide 3 (Human)

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit which belongs to the WD repeat G protein beta family. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]

G-beta 3: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction. G proteins are composed of 3 units, alpha, beta and gamma. Interacts with RASD2. Belongs to the WD repeat G protein beta family.

Protein type: G protein, heterotrimeric; G protein; G protein, heterotrimeric beta

Chromosomal Location of Human Ortholog: 12p13

Cellular Component: cytosol; plasma membrane

Molecular Function: GTPase activity; GTPase binding; protein binding

Biological Process: G-protein coupled receptor protein signaling pathway; protein folding; regulation of blood pressure

Disease: Hypertension, Essential; Night Blindness, Congenital Stationary, Type 1h