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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
DNA
TYPE functioning gene
SPECIAL FEATURE
text a trinucleotide CCG repeat length polymorphism in the 5' UTR
STRUCTURE 105.80 kb     12 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
text
  • alternative polyadenylation signals
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 polyA site 3180 37.2 340 - 2008 1804587
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestivemouthtongue  highly
    Endocrineneuroendocrinepituitary  highly
    Gustatory (taste)tonguetaste buds   
    Reproductivefemale systemovary  highly
    Visualeyeretina  highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadiposebrown highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualrod photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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