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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
Corresponding disease
MRD42 mental retardation, autosomal dominant 4
Location 1p36.33      Physical location : 1.716.729 - 1.822.495
Synonym name
  • transducin beta chain 1
  • G protein, beta-1 subunit
  • Synonym symbol(s) GB1
    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
    Physical map
    SCNN1D 1p36.33 sodium channel, nonvoltage-gated 1, delta CENTB5 1p36 centaurin, beta 5 FLJ90811 1p36.33 hypothetical protein FLJ90811 LOC388774 1 similar to hypothetical protein FLJ20542 1p36.33 hypothetical protein FLJ20542 TAS1R3 1p36.33 taste receptor, type 1, member 3 DVL1 1p36.33 dishevelled, dsh homolog 1 (Drosophila) MGC3047 1p36.33 hypothetical protein MGC3047 AKIP 1p36.33 aurora-A kinase interacting protein LOC388775 1 similar to testis-specific protein NYD-TSP1 MRPL20 1p36.3-36.2 mitochondrial ribosomal protein L20 LOC391207 1 LOC391207 LOC388582 1 LOC388582 WARP 1p36.33 von Willebrand factor A domain-related protein FLJ37183 1p36.33 FLJ37183 protein TOB3 1p36.33 FLJ37183 protein FLJ10709 1p36.33 hypothetical protein FLJ10709 TLR5 1q33.3 toll-like receptor 5 LOC339453 1p36.33 hypothetical LOC339453 HSPC182 1p36.33 HSPC182 protein MMP23A 1p36.3 matrix metalloproteinase 23A SLC35E2 1p36.33 solute carrier family 35, member E2 FLJ13052 1p36.33-p36.21 NAD kinase GNB1 1p36.2 guanine nucleotide binding protein (G protein), beta polypeptide 1 LOC388583 1 similar to hypothetical protein LOC339457 PRKCZ 1p36.33-p36.2 protein kinase C, zeta FLJ31031 1p36.32 hypothetical protein FLJ31031 FLJ14100 1p36.32 hypothetical protein FLJ14100 SKI 1p36.3 v-ski sarcoma viral oncogene homolog (avian)
    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
    Connectiveadipose  highly
    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
  • 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