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FLASH GENE
Symbol GNA11 contributors: mct - updated : 21-02-2015
HGNC name guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
HGNC id 4379
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a 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
    • HOMOLOGY
    intraspecies paralog to GNAQ
    Homologene
    FAMILY
  • G-alpha family
  • G(q) subfamily
    • CATEGORY signaling , receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • mediating pertussis toxin-resistant stimulation of phospholipase C beta
  • involved as modulators or transducers in various
    • transmembrane signaling systems
  • involved in signaling of gonadotropin-releasing hormone receptor, which negatively regulates cell growth
  • acting as an activator of phospholipase C
  • endothelial GNAQ/GNA11-mediated signaling as a critical mediator of fatal systemic anaphylaxis
  • GNAQ and GNA11 contribute to the maintenance of cellular electrophysiology and Ca2+ handling in ventricular cardiomyocytes
  • contribute to T lymphocyte migration by promoting turnover of integrin ITGAL through recycling
  • GNA11 and GNA14 induce changes in cellular morphology and growth-factor independence via MAPK activation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • guanine nucleotide binding
  • KISS1R regulates ERK1/2 activity and hypothalamic gene expression in a GNAQ/GNA11 and ARRB-dependent manner
  • ADRBK1 selectively interacts with GNAQ/GNA11 family that are released during G protein-coupled receptor activation
    • cell & other
    REGULATION
    Phosphorylated by PRKC and CAMK1 contributing to agonist-induced homologous desensitization of HTR2A signaling as well as heterologous desensitization
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in breast cancer
    tumoral somatic mutation      
    in uveal melanoma
    tumoral somatic mutation      
    in primary melanocytic tumours of the CNS, GNA11 and NRAS mutations represent a mechanism of MAPK pathway activation alternative to the common GNAQ mutations( :
    tumoral somatic mutation     gain of function
    in iris melanomas
    Susceptibility to uveal melanoma, and rapidly involuting congenital hemangioma [RICH] or non-involuting congenital hemangioma [NICH]
    Variant & Polymorphism other
  • 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
    allergy  
    potential new target to prevent or treat anaphylactic reactions
    ANIMAL & CELL MODELS