GNB1
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. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternative splicing results in multiple transcript variants.
Full Name
G Protein Subunit Beta 1
Function
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.
Biological Process
Adenylate cyclase-activating dopamine receptor signaling pathway Source: BHF-UCL
Cardiac muscle cell apoptotic process Source: Ensembl
Cell population proliferation Source: Ensembl
Cellular response to catecholamine stimulus Source: BHF-UCL
Cellular response to hypoxia Source: Ensembl
Cellular response to prostaglandin E stimulus Source: BHF-UCL
G protein-coupled acetylcholine receptor signaling pathway Source: ProtInc
G protein-coupled receptor signaling pathway Source: GO_Central
Phospholipase C-activating G protein-coupled receptor signaling pathway Source: Ensembl
Positive regulation of cytosolic calcium ion concentration Source: Ensembl
Ras protein signal transduction Source: ProtInc
Retina development in camera-type eye Source: Ensembl
Sensory perception of taste Source: Ensembl
Signal transduction Source: ProtInc
Cellular Location
Cytosol; Extracellular exosome; Extracellular vesicle; Lysosomal membrane; Heterotrimeric G-protein complex; Photoreceptor outer segment membrane; Plasma membrane; Cell body; Cytoplasm; Dendrite; Membrane; Photoreceptor disc membrane; Photoreceptor inner segment; Synapse
Involvement in disease
Mental retardation, autosomal dominant 42 (MRD42):
A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD42 patients manifest global developmental delay commonly accompanied by hypotonia, seizures of various types, ophthalmological manifestations, and poor growth.
PTM
Phosphorylation at His-266 by NDKB contributes to G protein activation by increasing the high energetic phosphate transfer onto GDP.