Aliases for GNB1 Gene
External Ids for GNB1 Gene
Previous GeneCards Identifiers for GNB1 Gene
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. [provided by RefSeq, Sep 2013]
GeneCards Summary for GNB1 Gene
GNB1 (G Protein Subunit Beta 1) is a Protein Coding gene. Diseases associated with GNB1 include Mental Retardation, Autosomal Dominant 42 and Cerebral Visual Impairment. Among its related pathways are Presynaptic function of Kainate receptors and Translation Translation regulation by Alpha-1 adrenergic receptors. Gene Ontology (GO) annotations related to this gene include GTPase activity and protein complex binding. An important paralog of this gene is GNB4.
UniProtKB/Swiss-Prot for GNB1 Gene
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.
Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand binding causes a receptor conformational change, detaching the G protein and switching it 'on'.