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FLASH GENE
Symbol GNAQ contributors: mct/pgu - updated : 23-01-2013
HGNC name guanine nucleotide binding protein (G protein), q polypeptide
HGNC id 4390
Location 9q21.2      Physical location : 80.335.199 - 80.646.192
Synonym symbol(s) GBQ, RP11-494N1.1, G-ALPHA-q, GAQ, GQ
DNA
TYPE functioning gene
STRUCTURE 311.03 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Physical map
LOC392351 9 similar to tMDC I LOC138971 9q21.31 similar to dipeptidylpeptidase III isoform 1; dipeptidylpeptidase III LOC138972 9q21.31 similar to Centaurin gamma 2 RORB 9q22 RAR-related orphan receptor B TRPM6 9q21.13 transient receptor potential cation channel, subfamily M, member 6 C9orf40 9q21.31 chromosome 9 open reading frame 40 C9orf41 9q21.31 chromosome 9 open reading frame 41 FLJ20559 9q21.31 hypothetical protein FLJ20559 OSTF1 12q24.1-q24.2 osteoclast stimulating factor 1 LOC138932 9q21.31 similar to Hkr1p PCSK5 9q21.3 proprotein convertase subtilisin/kexin type 5 FLJ11149 9q21.31 riboflavin kinase LOC158473 9q21.31 similar to protein 40kD GCNT1 9q13-q21 glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase) LOC392352 9 similar to peptidyl-Pro cis trans isomerase KIAA0367 9q13-q22.1 similar to peptidyl-Pro cis trans isomerase C9orf65 9q21.32 chromosome 9 open reading frame 65 CHAC 9q21 chorea acanthocytosis GNA14 9q21.2 guanine nucleotide binding protein (G protein), alpha 14 GNAQ 9q21 guanine nucleotide binding protein (G protein), q polypeptide LOC138916 9q21.32 synaptogyrin 2 pseudogene LOC158452 9q21.32 similar to argininosuccinate synthetase LOC392353 9 similar to CDC28 protein kinase 2; CKS1(S. cerevisiae Cdc28/Cdc2 kinase subunit) homolog-2 FLJ12643 PSAT1 9q21.2 phosphoserine aminotransferase 1 LOC340460 9q21.32 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC286224 9q21.32 similar to chromosome 7 open reading frame 17 protein; 16.7kD protein TLE4 9q21.31-q21.32 transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) LOC347119 9q21.32 similar to chromosome 15 open reading frame 2 LOC392354 9 similar to cytochrome c oxidase subunit I TLE1 19p13.3 transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) LOC392355 9 similar to ORF2 FLJ43950 9q21.33 FLJ43950 protein LOC389761 9 similar to RIKEN cDNA 1700013B16 LOC389762 9 hypothetical gene supported by AK126070 LOC389763 9 similar to RIKEN cDNA 1700013B16
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 2215 - 359 - 1999 10191087
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon predominantly
Hearing/Equilibriumearinnercochlea highly
Reproductivefemale systemplacenta  highly
 male systemtestis  predominantly
 male systemprostate  predominantly
Skin/Tegumentskin   highly
Visualeyeanterior segmentcornea  
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow  highly
Nervouscentral   
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticerthrocyte
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a polybasic region in its N terminus that contributes to plasma membrane localization, and required for signaling and influences membrane nanodomain distribution
  • GTPase domain with three regions named switches 1, 2 and 3 and including the sites for guanine nucleotide binding and effector interaction
  • an helical domain
  • mono polymer heteromer , trimer
    HOMOLOGY
    interspecies homolog to rattus Gnaq (99,44 pc)
    homolog to murine Gnaq (99,72 pc)
    homolog to Drosophila Galpha49B (84,99 pc)
    intraspecies paralog to GNA11
    Homologene
    FAMILY G alpha family, G(q) subfamily
    CATEGORY protooncogene , signaling , receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nuclear envelope
    basic FUNCTION
  • mediating pertussis toxin-resistant stimulation of phospholipase C beta
  • involved as modulators or transducers in various transmembrane signaling systems
  • operates downstream of several GPCRs that are important in melanocyte homeostasis and neoplasia, and involved in endothelin signalling, which is essential for melanocyte survival early during development
  • endothelial GNAQ/GNA11-mediated signaling as a critical mediator of fatal systemic anaphylaxis
  • GNAQ signal plays an inhibitory role in the PTH osteoanabolic action, suggesting that its suppression may lead to a novel treatment in combination with PTH against osteoporosis
  • GNAQ and GNA11 contribute to the maintenance of cellular electrophysiology and Ca2+ handling in ventricular cardiomyocytes
  • influence of GNAQ is not confined to the vesicles that express it, as its reduction alters intracellular trafficking of other vesicles involved in recycling
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • constituent of cell cytoskeleton
  • three units (alpha, beta and gamma). alpha subunit of one of the heterotrimeric GTP-binding proteins that mediates stimulation of phospholipase C-beta
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds SLC9A3R1
  • RASA3 links GNAI1 proteins to inhibit GNAQ-induced RAS/ERK1/2 activation
  • TBXA2R interacts with the GNAQ, thereby activating phospholipase C and increasing the intracellular calcium level
  • KISS1R regulates ERK1/2 activity and hypothalamic gene expression in a GNAQ/GNA11 and ARRB-dependent manner
  • TSNAX, localized in the cytosol and nucleus, competes with plasma-membrane bound GNAQ for PLCB1 binding thus stabilizing PLCB1 in other cellular compartments
  • ADRBK1 selectively interacts with GNAQ/GNA11 family that are released during G protein-coupled receptor activation
  • WDR36 associated with PLCB2 and increased the interaction between GNAQ and PLCB2, but prevented sequestration of activated GNAQ by GRK2
  • a fraction of the cellular RARA pool is present in membrane lipid rafts, where it forms complexes with GNAQ in response to RA
  • retinoic acid receptor RARA pool present in membrane lipid rafts forms complexes with GNAQ to activate MAPK14
  • is a GTPase-activating protein for the GNAQ and GNAI1 subunits of heterotrimeric G-proteins that turns off signaling by G-protein coupled receptors
  • having an impact on ITGAL expression at plasma membrane level and also on its internalization
  • SNCG competes for GNAQ association, but not for activators that bind to the N-terminus
  • cell & other
  • interacting with components of the cell cytoskeleton
  • REGULATION
    Other histaminylation of Gln residues is a novel posttranslational modification implicated in GNAQ
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in uveal melanoma
    Susceptibility
  • to accelerated mortality in African-American heart failure
  • to insulin resistance and obesity in PCOS (polycystic ovary syndrome)
  • to uveal melanoma, and rapidly involuting congenital hemangioma [RICH] or non-involuting congenital hemangioma [NICH]
  • Variant & Polymorphism other
  • -694/-695 promoter polymorphism alters transcription factor binding, increases promoter activity and adversely affects outcome in heart failure
  • GNAQ promoter diplotypes are associated with insulin resistance and obesity in PCOS
  • Glu209 GNAQ and GNA11 missense variants we identified are common in uveal melanoma, and in rapidly involuting congenital hemangioma [RICH] or non-involuting congenital hemangioma [NICH]
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    osteoarticularboneostéoporosis
    suppression of GNAQ signal may lead to a novel treatment in combination with PTH against osteoporosis
    allergy  
    potential new target to prevent or treat anaphylactic reactions
    ANIMAL & CELL MODELS