GNB1 Antibody

1. Mutation in the GNB1 gene is associated with neurodevelopmental disorder and cutaneous mastocytosis. PMID: 29174093
2. 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 PMID: 28650474
3. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. PMID: 27108799
4. 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 PMID: 28087732
5. PhLP1 binding stabilizes the Gbeta fold, disrupting interactions with CCT and releasing a PhLP1-Gbeta dimer for assembly with Ggamma. PMID: 25675501
6. 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. PMID: 25485910
7. 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. PMID: 23954591
8. GNB1 plays an important role in the mTOR-related anti-apoptosis pathway and can potentially be targeted in the treatment of human breast cancer. PMID: 23603342
9. 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. PMID: 23326349
10. 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. PMID: 23171003
11. WDR26 is a novel Gbetagamma-binding protein that is required for the efficacy of Gbetagamma signaling and leukocyte migration PMID: 22065575
12. 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. PMID: 21679469
13. Data implicate the domain I-II linker region as an important contributor to voltage dependent Gbeta1/Ggamma2 modulation of Cav2.2 calcium channels. PMID: 20181083
14. 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. PMID: 20048162
15. Directional sensing requires GNB1-mediated PAK1 and PIX alpha-dependent activation of Cdc42. PMID: 12887923
16. Data show that G protein inhibition of N-type calcium channels is critically dependent on two separate but adjacent approximately 20-amino acid regions of the Gbeta subunit, as examined with Gbetas 1 and 5 and Ggamma2. PMID: 15105422
17. G betagamma binds HDAC5 and inhibits its transcriptional co-repression activity PMID: 16221676
18. HSD-3.8 (SPAG1), interacts with G-protein beta 1 subunit and activates extracellular signal-regulated kinases 1 and 2 PMID: 16368546
19. G protein betagamma subunits stimulate type V and VI adenylyl cyclases PMID: 17110384
20. No likely pathogenic GNB1 mutations have been found in any of 185 unrelated patients with autosomal dominant retinitis pigmentosa. PMID: 17167406
21. While digenic disease with the SP4 Asn306Ser and the GNB1 intronic variant alleles has not been established, neither has it been ruled out. This leaves open the possibility of a cooperative involvement of SP4 and GNB1 in the normal function of the retina. PMID: 17356515
22. Fission of transport carriers at the trans-Golgi network is dependent on specifically PLCbeta3, which is necessary to activate PKCeta and PKD in that Golgi compartment, via diacylglycerol production. PMID: 17492941
23. Gbetagamma mediates UVB-induced human keratinocyte apoptosis by augmenting the ectodomain shedding of HB-EGF, which sequentially activates EGFR and p38 PMID: 17548351
24. signaling pathway by which G(i)-coupled receptor specifically induces Rac and Cdc42 activation through direct interaction of Gbetagamma with FLJ00018. PMID: 18045877
25. RACK1 regulates directional cell migration by acting on G betagamma at the interface with its effectors PLC beta and PI3K gamma PMID: 18596232
26. Results identify novel functions of beta-arrestin1 in binding to the beta1gamma2 subunits of heterotrimeric G-proteins and promoting G(betagamma)-mediated Akt signalling for NF-kappaB activation. PMID: 18729826
27. Strong candidate gene for severe retinitis pigmentosa, RP32 (human 1p34.3-p13.3). Conclusion is based on a massive expression data set for mouse (103 strains) and joint analysis of RetNet database. PMID: 19727342

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HGNC: 4396

OMIM: 139380

KEGG: hsa:2782

STRING: 9606.ENSP00000367869

UniGene: Hs.430425