GNAQ

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:

• Beta adrenergic receptor kinase,
• Bruton's tyrosine kinase,
• RGS16
• RGS4
• RIC8A, and
• Sodium-hydrogen antiporter 3 regulator 1.

References

References

1. (February 1997). "Molecular cloning of human G alpha q cDNA and chromosomal localization of the G alpha q gene (GNAQ) and a processed pseudogene". Genomics.
2. [http://www.omim.org/entry/139313 139313 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-11; GNA11] at [[OMIM]]. Retrieved January 1, 2015.
3. "Entrez Gene: GNAQ guanine nucleotide binding protein (G protein), q polypeptide".
4. (May 23, 2013). "Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.". The New England Journal of Medicine.
5. (August 2003). "Differential interaction of GRK2 with members of the G alpha q family". Biochemistry.
6. (October 1998). "Identification of the binding site for Gqalpha on its effector Bruton's tyrosine kinase". Proc. Natl. Acad. Sci. U.S.A..
7. (July 1998). "Expression of GTPase-deficient Gialpha2 results in translocation of cytoplasmic RGS4 to the plasma membrane". J. Biol. Chem..
8. (May 2003). "Human brain synembryn interacts with Gsalpha and Gqalpha and is translocated to the plasma membrane in response to isoproterenol and carbachol". J. Cell. Physiol..
9. (March 2003). "Mammalian Ric-8A (synembryn) is a heterotrimeric Galpha protein guanine nucleotide exchange factor". J. Biol. Chem..
10. (October 2002). "Regulation of GTP-binding protein alpha q (Galpha q) signaling by the ezrin-radixin-moesin-binding phosphoprotein-50 (EBP50)". J. Biol. Chem..