Species Human Entrez 2776 | Human Mouse Ensembl ENSG00000156052 | |
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Aliases GNAQ, CMC1, G-ALPHA-q, GAQ, SWS, G protein subunit alpha q External IDs MGI: 95776 HomoloGene: 1566 GeneCards: GNAQ | ||
Guanine nucleotide-binding protein G(q) subunit alpha is a protein that in humans is encoded by the GNAQ gene. Together with GNA11 (its paralogue), it functions as a Gq alpha subunit.
Contents
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 Sturge-Weber syndrome and port-wine stains.
Interactions
GNAQ has been shown to interact with: