GNB3
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
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.{{cite journal | author = Siffert W | title = Molecular genetics of G proteins and atherosclerosis risk | journal = Basic Res Cardiol | volume = 96 | issue = 6 | pages = 606–11 |date=Dec 2001 | pmid = 11770079 | doi =10.1007/s003950170012 | s2cid = 21235423 }}{{cite journal |vauthors=Weinstein LS, Chen M, Xie T, Liu J | title = Genetic diseases associated with heterotrimeric G proteins | journal = Trends Pharmacol Sci | volume = 27 | issue = 5 | pages = 260–6 |date=May 2006 | pmid = 16600389 | doi = 10.1016/j.tips.2006.03.005 }}
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.{{cite web | title = Entrez Gene: GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2784}}
References
{{reflist}}
Further reading
{{refbegin | 2}}
- {{cite journal |vauthors=Wedegaertner PB, Wilson PT, Bourne HR |title=Lipid modifications of trimeric G proteins. |journal=J. Biol. Chem. |volume=270 |issue= 2 |pages= 503–6 |year= 1995 |pmid= 7822269 |doi=10.1074/jbc.270.2.503 |doi-access=free }}
- {{cite journal |vauthors=Downes GB, Gautam N |title=The G protein subunit gene families. |journal=Genomics |volume=62 |issue= 3 |pages= 544–52 |year= 2000 |pmid= 10644457 |doi= 10.1006/geno.1999.5992 }}
- {{cite journal |vauthors=Sartori M, Parotto E, Ceolotto G |title=[C825T polymorphism of the GNB3 gene codifying the G-protein beta3-subunit and cardiovascular risk] |journal=Ann. Ital. Med. Int. |volume=19 |issue= 4 |pages= 240–8 |year= 2005 |pmid= 15678704 |display-authors=etal}}
- {{cite journal |vauthors=Zhu H, Wang X, Lu Y |title=Update on G-protein polymorphisms in hypertension. |journal=Curr. Hypertens. Rep. |volume=8 |issue= 1 |pages= 23–9 |year= 2006 |pmid= 16600156 |doi=10.1007/s11906-006-0037-4 |s2cid=26945864 |display-authors=etal}}
- {{cite journal | author=Weder AB |title=Genetics and hypertension. |journal=Journal of Clinical Hypertension (Greenwich, Conn.) |volume=9 |issue= 3 |pages= 217–23 |year= 2007 |pmid= 17341998 |doi=10.1111/j.1524-6175.2007.06587.x |pmc=8109857 |url=https://deepblue.lib.umich.edu/bitstream/2027.42/75304/1/j.1524-6175.2007.06587.x.pdf |hdl=2027.42/75304 |s2cid=10559655 |hdl-access=free }}
- {{cite journal |vauthors=Levine MA, Modi WS, O'Brien SJ |title=Chromosomal localization of the genes encoding two forms of the G protein beta polypeptide, beta 1 and beta 3, in man. |journal=Genomics |volume=8 |issue= 2 |pages= 380–6 |year= 1991 |pmid= 1979057 |doi=10.1016/0888-7543(90)90296-7 |url=https://zenodo.org/record/1258577 |doi-access=free }}
- {{cite journal |vauthors=Levine MA, Smallwood PM, Moen PT |title=Molecular cloning of beta 3 subunit, a third form of the G protein beta-subunit polypeptide. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=87 |issue= 6 |pages= 2329–33 |year= 1990 |pmid= 2107550 |doi=10.1073/pnas.87.6.2329 | pmc=53680 |bibcode=1990PNAS...87.2329L |display-authors=etal|doi-access=free }}
- {{cite journal |vauthors=Garcia-Higuera I, Thomas TC, Yi F, Neer EJ |title=Intersubunit surfaces in G protein alpha beta gamma heterotrimers. Analysis by cross-linking and mutagenesis of beta gamma. |journal=J. Biol. Chem. |volume=271 |issue= 1 |pages= 528–35 |year= 1996 |pmid= 8550614 |doi= 10.1074/jbc.271.1.528|doi-access=free }}
- {{cite journal |vauthors=Yan K, Kalyanaraman V, Gautam N |title=Differential ability to form the G protein betagamma complex among members of the beta and gamma subunit families. |journal=J. Biol. Chem. |volume=271 |issue= 12 |pages= 7141–6 |year= 1996 |pmid= 8636150 |doi=10.1074/jbc.271.12.7141 |doi-access=free }}
- {{cite journal |vauthors=Ansari-Lari MA, Muzny DM, Lu J |title=A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13. |journal=Genome Res. |volume=6 |issue= 4 |pages= 314–26 |year= 1996 |pmid= 8723724 |doi=10.1101/gr.6.4.314 |display-authors=etal|doi-access=free }}
- {{cite journal |vauthors=Ansari-Lari MA, Shen Y, Muzny DM |title=Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination. |journal=Genome Res. |volume=7 |issue= 3 |pages= 268–80 |year= 1997 |pmid= 9074930 |doi=10.1101/gr.7.3.268 |display-authors=etal|doi-access=free }}
- {{cite journal |vauthors=Siffert W, Rosskopf D, Siffert G |title=Association of a human G-protein beta3 subunit variant with hypertension. |journal=Nat. Genet. |volume=18 |issue= 1 |pages= 45–8 |year= 1998 |pmid= 9425898 |doi= 10.1038/ng0198-45 |s2cid=10239855 |display-authors=etal}}
- {{cite journal |vauthors=Kageyama K, Murakami T, Iizuka K |title=Translocation of G-protein beta3 subunit from the cytosol pool to the membrane pool by beta1-adrenergic receptor stimulation in perfused rat hearts. |journal=Biochem. Pharmacol. |volume=58 |issue= 9 |pages= 1497–500 |year= 1999 |pmid= 10513993 |doi=10.1016/S0006-2952(99)00230-0 |display-authors=etal}}
- {{cite journal |vauthors=Rosskopf D, Busch S, Manthey I, Siffert W |title=G protein beta 3 gene: structure, promoter, and additional polymorphisms. |journal=Hypertension |volume=36 |issue= 1 |pages= 33–41 |year= 2000 |pmid= 10904009 |doi= 10.1161/01.hyp.36.1.33|doi-access=free }}
- {{cite journal |vauthors=Obineche EN, Frossard PM, Bokhari AM |title=An association study of five genetic loci and left ventricular hypertrophy amongst Gulf Arabs. |journal=Hypertens. Res. |volume=24 |issue= 6 |pages= 635–9 |year= 2002 |pmid= 11768721 |doi=10.1291/hypres.24.635 |doi-access=free }}
- {{cite journal |vauthors=Tabara Y, Kohara K, Miki T |title=Polymorphisms of genes encoding components of the sympathetic nervous system but not the renin-angiotensin system as risk factors for orthostatic hypotension. |journal=J. Hypertens. |volume=20 |issue= 4 |pages= 651–6 |year= 2002 |pmid= 11910300 |doi=10.1097/00004872-200204000-00022 |s2cid=22407752 }}
- {{cite journal |vauthors=Serretti A, Lorenzi C, Lilli R |title=Pharmacogenetics of lithium prophylaxis in mood disorders: analysis of COMT, MAO-A, and Gbeta3 variants. |journal=Am. J. Med. Genet. |volume=114 |issue= 4 |pages= 370–9 |year= 2002 |pmid= 11992559 |doi= 10.1002/ajmg.10357 |display-authors=etal}}
- {{cite journal |vauthors=Shlyakhto EV, Shwartz EI, Nefedova YB |title=Lack of association of G-protein subunit gene C825T polymorphism with left ventricular hypertrophy in essential hypertension. |journal=Med. Sci. Monit. |volume=8 |issue= 5 |pages= CR337–40 |year= 2002 |pmid= 12011775 |display-authors=etal}}
{{refend}}
{{Intracellular signaling peptides and proteins}}
{{gene-12-stub}}