Guanine nucleotide-binding protein G(q) subunit alpha is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''GNAQ''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Together with
GNA11
Guanine nucleotide-binding protein subunit alpha-11 is a protein that in humans is encoded by the ''GNA11'' gene. Together with GNAQ (its paralogue), it functions as a Gq alpha subunit.paralogue
Sequence homology is the biological homology between DNA, RNA, or protein sequences, defined in terms of shared ancestry in the evolutionary history of life. Two segments of DNA can have shared ancestry because of three phenomena: either a spec ...
), it functions as a
Gq alpha subunit.
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).
upplied 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
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with:
*
Beta adrenergic receptor kinase
G-protein-coupled receptor kinase 2 (GRK2) is an enzyme that in humans is encoded by the ''ADRBK1'' gene. GRK2 was initially called Beta-adrenergic receptor kinase (βARK or βARK1), and is a member of the G protein-coupled receptor kinase subfa ...
,
*
Bruton's tyrosine kinase
Bruton's tyrosine kinase (abbreviated Btk or BTK), also known as tyrosine-protein kinase BTK, is a tyrosine kinase that is encoded by the ''BTK'' gene in humans. BTK plays a crucial role in B cell development.
Structure
BTK contains five diffe ...
,
*
RGS16
*
RGS4
*
RIC8A
Resistance to inhibitors of cholinesterase-8A (Ric-8A), also known as Synembryn-A, is a protein that in humans is encoded by the ''RIC8A'' gene.
Interactions
RIC8A has been shown to interact with GNAO1, GNA13, GNAQ, GNAS complex locus, GNAI2, ...
,
and
*
Sodium-hydrogen antiporter 3 regulator 1.
See also
*
List of genes mutated in pigmented cutaneous lesions
A number of gene mutations have been linked to conditions of or affecting the human integumentary system.
See also
* List of radiographic findings associated with cutaneous conditions
* List of cutaneous conditions caused by mutations in ke ...
References
Further reading
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{{GTPases