GNAQ

Guanine nucleotide-binding protein G(q) subunit alpha is a is_associated_with::protein that in humans is encoded by the GNAQ is_associated_with::gene. Together with is_associated_with::GNA11 (its is_associated_with::paralogue), it functions as a is_associated_with::Gq alpha subunit.

Function
Guanine nucleotide-binding proteins are a family of heterotrimeric proteins that couple cell surface, 7-transmembrane domain receptors to intracellular signaling pathways. Receptor activation catalyzes the exchange of GDP for GTP bound to the inactive G protein alpha subunit resulting in a conformational change and dissociation of the complex. The G protein alpha and beta-gamma subunits are capable of regulating various cellular effectors. Activation is terminated by a GTPase intrinsic to the G-alpha subunit. G-alpha-q is the alpha subunit of one of the heterotrimeric GTP-binding proteins that mediates stimulation of phospholipase C-beta (MIM 600230).[supplied by OMIM]

Mutations in this gene have been found associated to cases of is_associated_with::Sturge-Weber syndrome and is_associated_with::port-wine stains.

Interactions
GNAQ has been shown to interact with:
 * is_associated_with::Beta adrenergic receptor kinase,
 * is_associated_with::Bruton's tyrosine kinase,
 * is_associated_with::RGS16,
 * is_associated_with::RGS4
 * is_associated_with::RIC8A,  and
 * is_associated_with::Sodium-hydrogen antiporter 3 regulator 1.