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    GNB1 G protein subunit beta 1 [ Homo sapiens (human) ]

    Gene ID: 2782, updated on 3-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity.

    GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity.
    Kleinendorst L, Abawi O, Vos N, van der Valk ES, Maas SM, Morgan AT, Hildebrand MS, Da Silva JD, Florijn RJ, Lauffer P, Visser JA, van Rossum EFC, van den Akker ELT, van Haelst MM.

    08/8/2024
    Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy.

    Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy.
    Tsuji M, Ikeda A, Tsuyusaki Y, Iai M, Kurosawa K, Kosaki K, Goto T.

    08/16/2023
    G Protein Subunit beta1 Facilitates Influenza A Virus Replication by Promoting the Nuclear Import of PB2.

    G Protein Subunit β1 Facilitates Influenza A Virus Replication by Promoting the Nuclear Import of PB2.
    Zheng H, Ma L, Gui R, Lin X, Ke X, Jian X, Ye C, Chen Q., Free PMC Article

    07/2/2022
    AFAP1 antisense RNA 1 promotes retinoblastoma progression by sponging microRNA miR-545-3p that targets G protein subunit beta 1.

    AFAP1 antisense RNA 1 promotes retinoblastoma progression by sponging microRNA miR-545-3p that targets G protein subunit beta 1.
    Tang W, Zhang L, Li J, Guan Y., Free PMC Article

    04/16/2022
    Shikonin induces cell autophagy via modulating the microRNA -545-3p/guanine nucleotide binding protein beta polypeptide 1 axis, thereby disrupting cellular carcinogenesis in colon cancer.

    Shikonin induces cell autophagy via modulating the microRNA -545-3p/guanine nucleotide binding protein beta polypeptide 1 axis, thereby disrupting cellular carcinogenesis in colon cancer.
    Hu Z, Zhou X, Zeng D, Lai J., Free PMC Article

    04/16/2022
    Gbetagamma translocation to the Golgi apparatus activates ARF1 to spatiotemporally regulate G protein-coupled receptor signaling to MAPK.

    Gβγ translocation to the Golgi apparatus activates ARF1 to spatiotemporally regulate G protein-coupled receptor signaling to MAPK.
    Khater M, Bryant CN, Wu G., Free PMC Article

    09/4/2021
    Genotype-phenotype correlation in GNB1-related neurodevelopmental disorder: Potential association of p.Leu95Pro with cleft palate.

    Genotype-phenotype correlation in GNB1-related neurodevelopmental disorder: Potential association of p.Leu95Pro with cleft palate.
    Lansdon LA, Saunders CJ.

    08/7/2021
    In the new cohort of 18 patients, 50% of males had genitourinary anomalies and 61% of patients had gastrointestinal anomalies, suggesting a possible association of these findings with variants in GNB1.

    Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
    Hemati P, Revah-Politi A, Bassan H, Petrovski S, Bilancia CG, Ramsey K, Griffin NG, Bier L, Cho MT, Rosello M, Lynch SA, Colombo S, Weber A, Haug M, Heinzen EL, Sands TT, Narayanan V, Primiano M, Aggarwal VS, Millan F, Sattler-Holtrop SG, Caro-Llopis A, Pillar N, Baker J, Freedman R, Kroes HY, Sacharow S, Stong N, Lapunzina P, Schneider MC, Mendelsohn NJ, Singleton A, Loik Ramey V, Wou K, Kuzminsky A, Monfort S, Weiss M, Doyle S, Iglesias A, Martinez F, Mckenzie F, Orellana C, van Gassen KLI, Palomares M, Bazak L, Lee A, Bircher A, Basel-Vanagaite L, Hafström M, Houge G, C4RCD Research Group, DDD study, Goldstein DB, Anyane-Yeboa K.

    09/28/2019
    Mutation in the GNB1 gene is associated with neurodevelopmental disorder and cutaneous mastocytosis.

    Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review.
    Szczałuba K, Biernacka A, Szymańska K, Gasperowicz P, Kosińska J, Rydzanicz M, Płoski R.

    09/22/2018
    Through analysis of the genomic and proteomic profiles of resistant cells, we identified an acquired mutation in the GNB1 gene, K89M, as the most likely cause of the resistance

    An activating mutation of GNB1 is associated with resistance to tyrosine kinase inhibitors in ETV6-ABL1-positive leukemia.
    Zimmermannova O, Doktorova E, Stuchly J, Kanderova V, Kuzilkova D, Strnad H, Starkova J, Alberich-Jorda M, Falkenburg JHF, Trka J, Petrak J, Zuna J, Zaliova M., Free PMC Article

    11/4/2017
    Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

    Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
    Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, Cogné B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G, University of Washington Center for Mendelian Genomics, Rosen ABI, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bézieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB., Free PMC Article

    05/20/2017
    we demonstrate a pathogenic role of de novo and autosomal dominant mutations in GNB1 as a cause of Global developmental delay and provide insights how perturbation in heterotrimeric G protein function contributes to the disease

    Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
    Lohmann K, Masuho I, Patil DN, Baumann H, Hebert E, Steinrücke S, Trujillano D, Skamangas NK, Dobricic V, Hüning I, Gillessen-Kaesbach G, Westenberger A, Savic-Pavicevic D, Münchau A, Oprea G, Klein C, Rolfs A, Martemyanov KA., Free PMC Article

    05/20/2017
    PhLP1 binding stabilizes the Gbeta fold, disrupting interactions with CCT and releasing a PhLP1-Gbeta dimer for assembly with Ggamma.

    Structures of the Gβ-CCT and PhLP1-Gβ-CCT complexes reveal a mechanism for G-protein β-subunit folding and Gβγ dimer assembly.
    Plimpton RL, Cuéllar J, Lai CW, Aoba T, Makaju A, Franklin S, Mathis AD, Prince JT, Carrascosa JL, Valpuesta JM, Willardson BM., Free PMC Article

    05/2/2015
    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.

    Mutations in G protein β subunits promote transformation and kinase inhibitor resistance.
    Yoda A, Adelmant G, Tamburini J, Chapuy B, Shindoh N, Yoda Y, Weigert O, Kopp N, Wu SC, Kim SS, Liu H, Tivey T, Christie AL, Elpek KG, Card J, Gritsman K, Gotlib J, Deininger MW, Makishima H, Turley SJ, Javidi-Sharifi N, Maciejewski JP, Jaiswal S, Ebert BL, Rodig SJ, Tyner JW, Marto JA, Weinstock DM, Lane AA., Free PMC Article

    03/21/2015
    Data indicate that endogenous mTOR interacts with Gbetagamma.

    Gβγ interacts with mTOR and promotes its activation.
    Robles-Molina E, Dionisio-Vicuña M, Guzmán-Hernández ML, Reyes-Cruz G, Vázquez-Prado J.

    05/3/2014
    During corticogenesis, a cilium-transduced, noncanonical IGF-1R-Gbetagamma-phospho(T94)Tctex-1 signaling pathway promotes the proliferation of neural progenitors through modulation of ciliary resorption and G1 length.

    IGF-1 activates a cilium-localized noncanonical Gβγ signaling pathway that regulates cell-cycle progression.
    Yeh C, Li A, Chuang JZ, Saito M, Cáceres A, Sung CH., Free PMC Article

    11/30/2013
    GNB1 plays an important role in the mTOR-related anti-apoptosis pathway and can potentially be targeted in the treatment of human breast cancer.

    Guanine nucleotide binding protein β 1: a novel transduction protein with a possible role in human breast cancer.
    Wazir U, Jiang WG, Sharma AK, Mokbel K.

    11/23/2013
    Findings suggest a wide-ranging mechanism by which direct interaction of Gbetagamma with specific chromatin bound transcription factors regulates functional gene networks in response to GPCR activation in cells including the angiotensin II type 1 receptor.

    Interaction of G-protein βγ complex with chromatin modulates GPCR-dependent gene regulation.
    Bhatnagar A, Unal H, Jagannathan R, Kaveti S, Duan ZH, Yong S, Vasanji A, Kinter M, Desnoyer R, Karnik SS., Free PMC Article

    07/6/2013
    This study provided evidence that GNB1 gene polymorphisms are related to rapid virological response in HCV-1 and HCV-2 infected patients. GNB1 may play an important role in activating the antiviral response prior to treatment.

    Association of genetic variations in GNB1 with response to peginterferon plus ribavirin therapy for chronic hepatitis C in a Chinese population in Taiwan.
    Lim YP, Tsai FJ, Liao WL, Tien N, Hung DZ, Peng CY, Wan L., Free PMC Article

    06/15/2013
    WDR26 is a novel Gbetagamma-binding protein that is required for the efficacy of Gbetagamma signaling and leukocyte migration

    The WD40 repeat protein WDR26 binds Gβγ and promotes Gβγ-dependent signal transduction and leukocyte migration.
    Sun Z, Tang X, Lin F, Chen S., Free PMC Article

    02/25/2012
    Gbetagamma inhibits Epac-induced Ca 2+ elevation in melanoma cells. Cross talk of Ca 2+ signaling between Gbetagamma & Epac plays a major role in melanoma cell migration.

    Gβγ subunits inhibit Epac-induced melanoma cell migration.
    Baljinnyam E, Umemura M, De Lorenzo MS, Xie LH, Nowycky M, Iwatsubo M, Chen S, Goydos JS, Iwatsubo K., Free PMC Article

    11/5/2011
    Data implicate the domain I-II linker region as an important contributor to voltage dependent Gbeta1/Ggamma2 modulation of Cav2.2 calcium channels.

    Scanning mutagenesis of the I-II loop of the Cav2.2 calcium channel identifies residues Arginine 376 and Valine 416 as molecular determinants of voltage dependent G protein inhibition.
    Tedford HW, Kisilevsky AE, Vieira LB, Varela D, Chen L, Zamponi GW., Free PMC Article

    03/5/2011
    This protein has been found differentially expressed in the anterior cingulate cortex from patients with schizophrenia

    Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.
    Martins-de-Souza D, Schmitt A, Röder R, Lebar M, Schneider-Axmann T, Falkai P, Turck CW.

    04/22/2010
    Data show that activation of PLCbeta(2) by alpha(q) and beta1gamma2 differ from activation by Rac2 and from each other.

    Differential regulation of phospholipase C-beta2 activity and membrane interaction by Galphaq, Gbeta1gamma2, and Rac2.
    Gutman O, Walliser C, Piechulek T, Gierschik P, Henis YI., Free PMC Article

    04/12/2010
    Gbetagamma subunits enter in a protein complex with activated Rap1a and its effector Radil; this complex is required downstream of receptor stimulation for the activation of integrins and the positive modulation of cell-matrix adhesiveness.

    G protein betagamma subunits regulate cell adhesion through Rap1a and its effector Radil.
    Ahmed SM, Daulat AM, Meunier A, Angers S., Free PMC Article

    03/29/2010
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