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FLASH GENE
Symbol GNB1 contributors: mct/npt - updated : 01-06-2016
HGNC name guanine nucleotide binding protein (G protein), beta polypeptide 1
HGNC id 4396
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal alpha-helical segment
  • seven WD (Trp-Asp) repeats, forming a propeller structure
    • HOMOLOGY
    Homologene
    FAMILY
  • WD repeat G protein beta family
    • CATEGORY regulatory , receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction
  • GNB1, GNG2 subunits of heterotrimeric G proteins are activators of ARHGEF18 under physiological conditions
  • GNB1-mediated FYN activation integrates PTK2 with adherens junctions, preventing persistent endothelial barrier leakiness
  • GNB1/GNG2 subunits of heterotrimeric G proteins regulate cell-matrix adhesiveness by activating RAP1A-dependent inside-out signals and integrin activation
  • required for normal embryonic neurogenesis
  • during primordial germ cells migration GNB1, GNG2 signaling regulates RAC1 activity to control cell polarity, which is required for the responsiveness to chemokine signaling
  • GNB1 plays likely an important role in the MTOR-related anti-apoptosis pathway
  • PDE6G with RHO, GNAT1, GNB1, are active in phototransduction in rods only
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/taste
    a component
  • forming with G gamma a dimer associating with G alpha subunit
  • complexing with NDPKB
  • GNB1/GNG2 subunits enter in a protein complex with activated RAP1A and its effector RADIL and this complex is required downstream of receptor stimulation for the activation of integrins and the positive modulation of cell-matrix adhesiveness
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ataxin 10 required for neuritogenesis induction
  • comigrating with the glucocorticoid receptor to the nucleus and suppressing the GR-induced transactivation of glucocorticoid responsive genes
    • G beta 2 gamma2 dimer inhibiting the low voltage-activated Ca (2) channels
  • novel functions of ARRB1 in binding to the GNB1/GNG2 subunits of heterotrimeric G-proteins and promoting GNB-mediated Akt signalling GNB1/GNG2 for NF-kappaB activation
  • KCNJ6 is capable of interacting with GNB1, GNB2, GNB3 and not GNB4 or GNB5
  • crosstalk of Ca 2+ signaling between GNB1/GNG2 and RAPGEF3 in melanoma, which plays a role in regulation of cell migration
  • WDR26 is a novel GNG2/GNB1-binding protein that is required for the efficacy of GNG2/GNB1 signaling and leukocyte migration
  • is a novel RP2 interaction partner (RP2 specifically binds GNB1 and facilitates membrane association)
  • interacts with multiple genes encoding disease-associated Galpha subunits, including GNAO1, GNAI3, GNAT2, GNAS GNAL, GNAQ and GNA11
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRD42
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    GNB1 and GNB2 alterations confer transformed and resistance phenotypes across a range of human tumors and may be targetable with inhibitors of G protein signaling
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • GNB1 is a good candidate for playing a causal role in 1p36.33 deletion syndrome
    • Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    can potentially be targeted in the treatment of breast cancer
    ANIMAL & CELL MODELS
  • Gbeta1(-/-) embryos developed neural tube defects (NTDs) and abnormal actin organization was observed in the basal side of neuroepithelium, and also microencephaly and died within 2 days after birth