GNB3

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Guanine nucleotide binding protein (G protein), beta polypeptide 3
Identifiers
Symbol GNB3
External IDs OMIM139130 MGI95785 HomoloGene55628 GeneCards: GNB3 Gene
RNA expression pattern
PBB GE GNB3 206047 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2784 14695
Ensembl ENSG00000111664 ENSMUSG00000023439
UniProt P16520 Q61011
RefSeq (mRNA) NM_001297571 NM_013530
RefSeq (protein) NP_001284500 NP_038558
Location (UCSC) Chr 12:
6.95 – 6.96 Mb
Chr 6:
124.83 – 124.84 Mb
PubMed search [1] [2]

Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 is a protein that in humans is encoded by the GNB3 gene.[1][2]

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Additional splice variants may exist for this gene, but they have not been fully described.[3]

References[edit]

  1. ^ Siffert W (Dec 2001). "Molecular genetics of G proteins and atherosclerosis risk". Basic Res Cardiol 96 (6): 606–11. doi:10.1007/s003950170012. PMID 11770079. 
  2. ^ Weinstein LS, Chen M, Xie T, Liu J (May 2006). "Genetic diseases associated with heterotrimeric G proteins". Trends Pharmacol Sci 27 (5): 260–6. doi:10.1016/j.tips.2006.03.005. PMID 16600389. 
  3. ^ "Entrez Gene: GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3". 

Further reading[edit]

  • Wedegaertner PB, Wilson PT, Bourne HR (1995). "Lipid modifications of trimeric G proteins.". J. Biol. Chem. 270 (2): 503–6. doi:10.1074/jbc.270.2.503. PMID 7822269. 
  • Downes GB, Gautam N (2000). "The G protein subunit gene families.". Genomics 62 (3): 544–52. doi:10.1006/geno.1999.5992. PMID 10644457. 
  • Sartori M, Parotto E, Ceolotto G, et al. (2005). "[C825T polymorphism of the GNB3 gene codifying the G-protein beta3-subunit and cardiovascular risk]". Ann. Ital. Med. Int. 19 (4): 240–8. PMID 15678704. 
  • Zhu H, Wang X, Lu Y, et al. (2006). "Update on G-protein polymorphisms in hypertension.". Curr. Hypertens. Rep. 8 (1): 23–9. doi:10.1007/s11906-006-0037-4. PMID 16600156. 
  • Weder AB (2007). "Genetics and hypertension.". Journal of clinical hypertension (Greenwich, Conn.) 9 (3): 217–23. doi:10.1111/j.1524-6175.2007.06587.x. PMID 17341998. 
  • Levine MA, Modi WS, O'Brien SJ (1991). "Chromosomal localization of the genes encoding two forms of the G protein beta polypeptide, beta 1 and beta 3, in man.". Genomics 8 (2): 380–6. doi:10.1016/0888-7543(90)90296-7. PMID 1979057. 
  • Levine MA, Smallwood PM, Moen PT, et al. (1990). "Molecular cloning of beta 3 subunit, a third form of the G protein beta-subunit polypeptide.". Proc. Natl. Acad. Sci. U.S.A. 87 (6): 2329–33. doi:10.1073/pnas.87.6.2329. PMC 53680. PMID 2107550. 
  • Garcia-Higuera I, Thomas TC, Yi F, Neer EJ (1996). "Intersubunit surfaces in G protein alpha beta gamma heterotrimers. Analysis by cross-linking and mutagenesis of beta gamma.". J. Biol. Chem. 271 (1): 528–35. doi:10.1074/jbc.271.1.528. PMID 8550614. 
  • Yan K, Kalyanaraman V, Gautam N (1996). "Differential ability to form the G protein betagamma complex among members of the beta and gamma subunit families.". J. Biol. Chem. 271 (12): 7141–6. doi:10.1074/jbc.271.12.7141. PMID 8636150. 
  • Ansari-Lari MA, Muzny DM, Lu J, et al. (1996). "A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13.". Genome Res. 6 (4): 314–26. doi:10.1101/gr.6.4.314. PMID 8723724. 
  • Ansari-Lari MA, Shen Y, Muzny DM, et al. (1997). "Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination.". Genome Res. 7 (3): 268–80. doi:10.1101/gr.7.3.268. PMID 9074930. 
  • Siffert W, Rosskopf D, Siffert G, et al. (1998). "Association of a human G-protein beta3 subunit variant with hypertension.". Nat. Genet. 18 (1): 45–8. doi:10.1038/ng0198-45. PMID 9425898. 
  • Kageyama K, Murakami T, Iizuka K, et al. (1999). "Translocation of G-protein beta3 subunit from the cytosol pool to the membrane pool by beta1-adrenergic receptor stimulation in perfused rat hearts.". Biochem. Pharmacol. 58 (9): 1497–500. doi:10.1016/S0006-2952(99)00230-0. PMID 10513993. 
  • Rosskopf D, Busch S, Manthey I, Siffert W (2000). "G protein beta 3 gene: structure, promoter, and additional polymorphisms.". Hypertension 36 (1): 33–41. doi:10.1161/01.hyp.36.1.33. PMID 10904009. 
  • Obineche EN, Frossard PM, Bokhari AM (2002). "An association study of five genetic loci and left ventricular hypertrophy amongst Gulf Arabs.". Hypertens. Res. 24 (6): 635–9. doi:10.1291/hypres.24.635. PMID 11768721. 
  • Tabara Y, Kohara K, Miki T (2002). "Polymorphisms of genes encoding components of the sympathetic nervous system but not the renin-angiotensin system as risk factors for orthostatic hypotension.". J. Hypertens. 20 (4): 651–6. doi:10.1097/00004872-200204000-00022. PMID 11910300. 
  • Serretti A, Lorenzi C, Lilli R, et al. (2002). "Pharmacogenetics of lithium prophylaxis in mood disorders: analysis of COMT, MAO-A, and Gbeta3 variants.". Am. J. Med. Genet. 114 (4): 370–9. doi:10.1002/ajmg.10357. PMID 11992559. 
  • Shlyakhto EV, Shwartz EI, Nefedova YB, et al. (2002). "Lack of association of G-protein subunit gene C825T polymorphism with left ventricular hypertrophy in essential hypertension.". Med. Sci. Monit. 8 (5): CR337–40. PMID 12011775.