Guanine nucleotide-binding proteins (G proteins) are a family of proteins involved in transmitting chemical signals from the outside of a cell to the inside. The Guanine Nucleotide Binding Protein Alpha Z Polypeptide (GNAZ) is a specific type of G protein alpha subunit that plays a crucial role in various cellular processes.
The GNAZ gene was first identified and cloned in 1988 by Blatt et al. They discovered that the protein encoded by this gene, referred to as G(z-alpha), had a unique amino acid sequence that differed significantly from other G-alpha subunits . This protein was found to be highly enriched in neural tissue, suggesting its importance in neural functions .
The GNAZ gene is located on chromosome 22 at the cytogenetic location 22q11.22-q11.23 . The precise mapping of this gene was achieved through various techniques, including hybridization to DNA from rodent-human cell hybrids and fluorescence in situ hybridization . These studies confirmed the localization of the GNAZ gene to the specified region on chromosome 22 .
GNAZ is a part of the heterotrimeric G protein complex, which consists of alpha, beta, and gamma subunits. The alpha subunit, which includes GNAZ, contains the guanine nucleotide-binding site. This site alternates between an active, GTP-bound state and an inactive, GDP-bound state . The activation of GNAZ is triggered by G protein-coupled receptors (GPCRs), which promote the exchange of GDP for GTP . The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal .
GNAZ plays a critical role in various signaling pathways. It is involved in the activation of adenylyl cyclases, which increases the levels of the signaling molecule cAMP . This protein also functions downstream of several GPCRs, including beta-adrenergic receptors . Additionally, GNAZ is known to stimulate the Ras signaling pathway via RAPGEF2 .
Recombinant forms of GNAZ are produced using biotechnological methods to study its structure and function in detail. These recombinant proteins are essential for research purposes, allowing scientists to investigate the specific roles of GNAZ in cellular signaling and its potential implications in various diseases.