GNAQ

This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]

guanine nucleotide binding protein (G protein), q polypeptide

Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Regulates B-cell selection and survival and is required to prevent B-cell-dependent autoimmunity. Regulates chemotaxis of BM-derived neutrophils and dendritic cells (in vitro) (By similarity).

Transduces FFAR4 signaling in response to long-chain fatty acids (LCFAs).

Action potential Source: GO_Central
Activation of phospholipase C activity Source: ProtInc
Adenylate cyclase-activating G protein-coupled receptor signaling pathway Source: GO_Central
Adenylate cyclase-modulating G protein-coupled receptor signaling pathway Source: GO_Central
Blood coagulation Source: ProtInc
Entrainment of circadian clock Source: AgBase
Glutamate receptor signaling pathway Source: GO_Central
G protein-coupled acetylcholine receptor signaling pathway Source: AgBase
Negative regulation of protein kinase activity Source: BHF-UCL
Phototransduction, visible light Source: AgBase
Protein stabilization Source: BHF-UCL
Regulation of canonical Wnt signaling pathway Source: BHF-UCL

Cell membrane; Nucleus; Nucleus membrane; Golgi apparatus. Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes.

Capillary malformations, congenital (CMC):
A form of vascular malformations that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas, which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity.
Sturge-Weber syndrome (SWS):
A syndrome characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common features are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes.

Palmitoylated by ZDHHC3 and ZDHHC7 (PubMed:19001095). Palmitoylation occurs in the Golgi and participates in the localization of GNAQ to the plasma membrane (PubMed:19001095).
(Microbial infection) Deamidated at Gln-209 by Photorhabdus asymbiotica toxin PAU_02230, blocking GTP hydrolysis of heterotrimeric GNAQ or GNA11 and G-alphai (GNAI1, GNAI2 or GNAI3) proteins, thereby activating RhoA.
Histaminylated at Gln-209 residues by TGM2.