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FLASH GENE
Symbol GNAQ contributors: mct/pgu - updated : 23-01-2015
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
    tumoral somatic mutation     gain of function
    in iris melanomas
    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