Anti-GNAQ antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

GNAQ also known as Guanine nucleotide-binding protein G(q) subunit alpha plays a role in cell signaling as a modulator or transducer in various transmembrane signaling systems. With a molecular weight of approximately 42 kDa GNAQ belongs to the Gq family of G proteins. It is widely expressed in human tissues such as the brain heart and placenta. The protein's main mechanism involves binding to GTP and GDP leading it to switch between inactive GDP-bound and active GTP-bound states.

Biological function summary

GNAQ influences multiple cell processes mediating the activation of phospholipase C-beta a critical enzyme in hydrolyzing phosphatidylinositol 45-bisphosphate (PIP2) to inositol trisphosphate and diacylglycerol. This action leads to the release of calcium ions from intracellular stores. GNAQ acts as part of a heterotrimeric G protein complex which requires coordination with beta and gamma subunits to achieve full functional capability. Its activity is critical for processes like cell proliferation and differentiation.

Pathways

GNAQ notably participates in the phosphoinositide signaling pathway and calcium signaling pathway. In the phosphoinositide signaling pathway GNAQ facilitates the link between G protein-coupled receptors (GPCRs) and downstream effectors such as phospholipase C-beta. Its activity couples with proteins like GNA11 another member of the Gq family which often shares overlapping functions and roles within these pathways. The calcium signaling pathway involves GNAQ-induced release of calcium ions contributing to various cellular events.

Associated diseases and disorders

GNAQ mutations link to uveal melanoma and Sturge-Weber syndrome. Studies show that these mutations activate the MAPK pathway independently promoting uncontrolled cell growth seen in uveal melanoma. GNA11 closely related to GNAQ also frequently undergoes similar mutations in uveal melanoma. In Sturge-Weber syndrome mutation of GNAQ leads to abnormal capillary growth and neurological issues evidencing its pathogenic role in vascular malformations.