Gnaq guanine nucleotide binding protein, alpha q polypeptide [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gnaqprovided by MGI
Official Full Name: guanine nucleotide binding protein, alpha q polypeptideprovided by MGI
Primary source: MGI:MGI:95776
See related: Ensembl:ENSMUSG00000024639 AllianceGenome:MGI:95776
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gq; GqI; Dsk1; Dsk10; Galphaq; 1110005L02Rik; 6230401I02Rik
Summary: Enables G protein activity and enzyme regulator activity. Involved in several processes, including G protein-coupled receptor signaling pathway; ligand-gated ion channel signaling pathway; and positive regulation of insulin secretion. Acts upstream of or within several processes, including G protein-coupled receptor signaling pathway; maternal behavior; and neuron development. Located in cell body; dendrite; and membrane. Is active in plasma membrane and postsynaptic cytosol. Is expressed in several structures, including central nervous system; gonad; heart; intestine smooth muscle circular layer; and retina. Used to study congestive heart failure and dilated cardiomyopathy. Human ortholog(s) of this gene implicated in Sturge-Weber syndrome; congestive heart failure; and familial multiple nevi flammei. Orthologous to human GNAQ (G protein subunit alpha q). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E18 (RPKM 21.9), CNS E14 (RPKM 19.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 A; 19 11.01 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (16110048..16365884)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (16132684..16388520)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Transcription repression of estrogen receptor alpha by ghrelin/Gq/11/YAP signaling in granulosa cells promotes polycystic ovary syndrome.
Title: Transcription repression of estrogen receptor alpha by ghrelin/Gq/11/YAP signaling in granulosa cells promotes polycystic ovary syndrome.
A mammalian-specific Alex3/Galphaq protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival.
Title: A mammalian-specific Alex3/Gα(q) protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival.
A regulatory node involving Galphaq, PLCbeta, and RGS proteins modulates platelet reactivity to critical agonists.
Title: A regulatory node involving Gα(q), PLCβ, and RGS proteins modulates platelet reactivity to critical agonists.
Developmental expression of the Sturge-Weber syndrome-associated genetic mutation in Gnaq: a formal test of Happle's paradominant inheritance hypothesis.
Title: Developmental expression of the Sturge-Weber syndrome-associated genetic mutation in Gnaq: a formal test of Happle's paradominant inheritance hypothesis.
Activation of PTH1R alleviates epididymitis and orchitis through Gq and beta-arrestin-1 pathways.
Title: Activation of PTH1R alleviates epididymitis and orchitis through Gq and β-arrestin-1 pathways.
Sex and brain region-specific regulation of serotonin transporter activity in synaptosomes in guanine nucleotide-binding protein G(q) alpha knockout mice.
Title: Sex and brain region-specific regulation of serotonin transporter activity in synaptosomes in guanine nucleotide-binding protein G(q) alpha knockout mice.
Endothelin signaling promotes melanoma tumorigenesis driven by constitutively active GNAQ.
Title: Endothelin signaling promotes melanoma tumorigenesis driven by constitutively active GNAQ.
Galphaq activation modulates autophagy by promoting mTORC1 signaling.
Title: Gαq activation modulates autophagy by promoting mTORC1 signaling.
Gqalpha/G11alpha deficiency in dorsomedial hypothalamus leads to obesity resulting from decreased energy expenditure and impaired sympathetic nerve activity.
Title: G(q)α/G(11)α deficiency in dorsomedial hypothalamus leads to obesity resulting from decreased energy expenditure and impaired sympathetic nerve activity.
Gs/Gq signaling switch in beta cells defines incretin effectiveness in diabetes.
Title: Gs/Gq signaling switch in β cells defines incretin effectiveness in diabetes.

Submit: New GeneRIF Correction See all GeneRIFs (117)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (3) 1 citation
Endonuclease-mediated (2)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:496675 (e-PCR)
- UniSTS:496675

Gnaq (e-PCR), detects polymorphism
- UniSTS:496675

RH127065 (e-PCR)
- UniSTS:209444

02.MMHAP85FRA8.seq (e-PCR)
- UniSTS:122714

D0M19Mit52 (e-PCR)
- UniSTS:128395

D19Mit52 (e-PCR), detects polymorphism
- UniSTS:128395

AW060788 (e-PCR)
- UniSTS:181213

RH124695 (e-PCR)
- UniSTS:161517

RH136177 (e-PCR)
- UniSTS:210172

Gnaq (e-PCR), detects polymorphism
- UniSTS:257021

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables G protein activity	IDA Inferred from Direct Assay more info	PubMed
enables G protein activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables G protein activity	ISO Inferred from Sequence Orthology more info	PubMed
enables G protein-coupled receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled receptor binding	IEA Inferred from Electronic Annotation more info
enables G-protein beta/gamma-subunit complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables G-protein beta/gamma-subunit complex binding	IEA Inferred from Electronic Annotation more info
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activator activity	ISO Inferred from Sequence Orthology more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	TAS Traceable Author Statement more info	PubMed
enables alkylglycerophosphoethanolamine phosphodiesterase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables enzyme regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables enzyme regulator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables enzyme regulator activity	ISO Inferred from Sequence Orthology more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cranial skeletal system development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within developmental pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic digit morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in endothelin receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within forebrain neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glutamate receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within glutamate receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ion channel modulating, G protein-coupled receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in ligand-gated ion channel signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in ligand-gated ion channel signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within maternal behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of potassium ion transport	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein kinase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within phospholipase C-activating dopamine receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of insulin secretion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of smooth muscle cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within post-embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein stabilization	ISO Inferred from Sequence Orthology more info
involved_in regulation of blood pressure	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of melanocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of platelet activation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in caveola	ISO Inferred from Sequence Orthology more info
located_in cell body	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
part_of heterotrimeric G-protein complex	IBA Inferred from Biological aspect of Ancestor more info
part_of heterotrimeric G-protein complex	ISO Inferred from Sequence Orthology more info	PubMed
part_of heterotrimeric G-protein complex	TAS Traceable Author Statement more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	ISO Inferred from Sequence Orthology more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in postsynaptic cytosol	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: guanine nucleotide-binding protein G(q) subunit alpha

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.