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 Hypotonia. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Toll Comparative Pathway. Gene Ontology (GO) annotations related to this gene include GTPase activity. An important paralog of this gene is GNB2.
UniProtKB/Swiss-Prot Summary 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'.