World Library  
Flag as Inappropriate
Email this Article

Gnaq

Article Id: WHEBN0014303547
Reproduction Date:

Title: Gnaq  
Author: World Heritage Encyclopedia
Language: English
Subject: Port-wine stain, Sturge–Weber syndrome, Bruton's tyrosine kinase, Beta adrenergic receptor kinase, Heterotrimeric G protein, Gq alpha subunit
Collection:
Publisher: World Heritage Encyclopedia
Publication
Date:
 

Gnaq

Guanine nucleotide binding protein (G protein), q polypeptide
PDB rendering based on 2bcj.
Available structures
PDB Ortholog search: RCSB
Identifiers
GNAQ Gene
RNA expression pattern

Guanine nucleotide-binding protein G(q) subunit alpha is a protein that in humans is encoded by the GNAQ gene.[1]

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][2]

Mutations in this gene have been found associated to cases of Sturge-Weber syndrome and port-wine stains.[3]

Interactions

GNAQ has been shown to interact with Sodium-hydrogen antiporter 3 regulator 1,[4] RIC8A,[5][6] RGS16,[7] Beta adrenergic receptor kinase,[8] RGS4[7][9] and Bruton's tyrosine kinase.[10]

See also

  • List of genes mutated in pigmented cutaneous lesions

References

Further reading



This article was sourced from Creative Commons Attribution-ShareAlike License; additional terms may apply. World Heritage Encyclopedia content is assembled from numerous content providers, Open Access Publishing, and in compliance with The Fair Access to Science and Technology Research Act (FASTR), Wikimedia Foundation, Inc., Public Library of Science, The Encyclopedia of Life, Open Book Publishers (OBP), PubMed, U.S. National Library of Medicine, National Center for Biotechnology Information, U.S. National Library of Medicine, National Institutes of Health (NIH), U.S. Department of Health & Human Services, and USA.gov, which sources content from all federal, state, local, tribal, and territorial government publication portals (.gov, .mil, .edu). Funding for USA.gov and content contributors is made possible from the U.S. Congress, E-Government Act of 2002.
 
Crowd sourced content that is contributed to World Heritage Encyclopedia is peer reviewed and edited by our editorial staff to ensure quality scholarly research articles.
 
By using this site, you agree to the Terms of Use and Privacy Policy. World Heritage Encyclopedia™ is a registered trademark of the World Public Library Association, a non-profit organization.
 


Copyright © World Library Foundation. All rights reserved. eBooks from Project Gutenberg are sponsored by the World Library Foundation,
a 501c(4) Member's Support Non-Profit Organization, and is NOT affiliated with any governmental agency or department.