Aliases for GNB5 Gene
External Ids for GNB5 Gene
Previous GeneCards Identifiers for GNB5 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. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]
GeneCards Summary for GNB5 Gene
GNB5 (G Protein Subunit Beta 5) is a Protein Coding gene. Diseases associated with GNB5 include Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia and Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism. Among its related pathways are CCR5 Pathway in Macrophages and Aquaporin-mediated transport. GO annotations related to this gene include GTPase activity and chaperone binding. An important paralog of this gene is GNB1.
UniProtKB/Swiss-Prot for GNB5 Gene
Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. 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'.