SAG (gene) explained

S-arrestin is a protein that in humans is encoded by the SAG gene.^{[1] [2]}

Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble protein in photoreceptor cells that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness.

Further reading

• Ghalayini AJ, Anderson RE . Activation of bovine rod outer segment phospholipase C by arrestin . J. Biol. Chem. . 267 . 25 . 17977–82 . 1992 . 10.1016/S0021-9258(19)37139-X . 1325454 . free .
• Huang SK, Klein DC, Korf HW . Immunocytochemical demonstration of rod-opsin, S-antigen, and neuron-specific proteins in the human pineal gland . Cell Tissue Res. . 267 . 3 . 493–8 . 1992 . 1533347 . 10.1007/BF00319371 . 22831066 .
• Palczewski K, Pulvermüller A, Buczyłko J, Hofmann KP . Phosphorylated rhodopsin and heparin induce similar conformational changes in arrestin . J. Biol. Chem. . 266 . 28 . 18649–54 . 1991 . 10.1016/S0021-9258(18)55112-7 . 1917988 . free .
• Palczewski K, McDowell JH, Jakes S, etal . Regulation of rhodopsin dephosphorylation by arrestin . J. Biol. Chem. . 264 . 27 . 15770–3 . 1989 . 10.1016/S0021-9258(18)71543-3 . 2550422 . free .
• Yamaki K, Tsuda M, Shinohara T . The sequence of human retinal S-antigen reveals similarities with alpha-transducin . FEBS Lett. . 234 . 1 . 39–43 . 1988 . 3164688 . 10.1016/0014-5793(88)81298-5 . 83543675 . free . 1988FEBSL.234...39Y .
• Adams MD, Kerlavage AR, Fleischmann RD, etal . Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence . Nature . 377 . 6547 Suppl . 3–174 . 1995 . 7566098 .
• Fuchs S, Nakazawa M, Maw M, etal . A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese . Nat. Genet. . 10 . 3 . 360–2 . 1995 . 7670478 . 10.1038/ng0795-360 . 8836948 .
• Calabrese G, Sallese M, Stornaiuolo A, etal . Chromosome mapping of the human arrestin (SAG), beta-arrestin 2 (ARRB2), and beta-adrenergic receptor kinase 2 (ADRBK2) genes . Genomics . 23 . 1 . 286–8 . 1995 . 7695743 . 10.1006/geno.1994.1497 .
• Diviani D, Lattion AL, Larbi N, etal . Effect of different G protein-coupled receptor kinases on phosphorylation and desensitization of the alpha1B-adrenergic receptor . J. Biol. Chem. . 271 . 9 . 5049–58 . 1996 . 8617782 . 10.1074/jbc.271.9.5049 . free .
• Yamamoto S, Sippel KC, Berson EL, Dryja TP . Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness . Nat. Genet. . 15 . 2 . 175–8 . 1997 . 9020843 . 10.1038/ng0297-175 . 9317102 .
• Sippel KC, DeStefano JD, Berson EL, Dryja TP . Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness . Invest. Ophthalmol. Vis. Sci. . 39 . 3 . 665–70 . 1998 . 9501883 .
• Andersen PS, Lavoie PM, Sékaly RP, etal . Role of the T cell receptor alpha chain in stabilizing TCR-superantigen-MHC class II complexes . Immunity . 10 . 4 . 473–83 . 1999 . 10229190 . 10.1016/S1074-7613(00)80047-3 . free .
• Lee KB, Ptasienski JA, Bunemann M, Hosey MM . Acidic amino acids flanking phosphorylation sites in the M2 muscarinic receptor regulate receptor phosphorylation, internalization, and interaction with arrestins . J. Biol. Chem. . 275 . 46 . 35767–77 . 2000 . 10952973 . 10.1074/jbc.M002225200 . free .
• Wistow G, Bernstein SL, Wyatt MK, etal . Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts . Mol. Vis. . 8 . 196–204 . 2002 . 12107411 .
• Zhu X, Li A, Brown B, etal . Mouse cone arrestin expression pattern: light induced translocation in cone photoreceptors . Mol. Vis. . 8 . 462–71 . 2002 . 12486395 .
• Zhang H, Cuenca N, Ivanova T, etal . Identification and light-dependent translocation of a cone-specific antigen, cone arrestin, recognized by monoclonal antibody 7G6 . Invest. Ophthalmol. Vis. Sci. . 44 . 7 . 2858–67 . 2003 . 12824223 . 10.1167/iovs.03-0072 . free . 10045/13046 . free .
• Chuang JZ, Vega C, Jun W, Sung CH . Structural and functional impairment of endocytic pathways by retinitis pigmentosa mutant rhodopsin-arrestin complexes . J. Clin. Invest. . 114 . 1 . 131–40 . 2004 . 15232620 . 10.1172/jci21136 . 437971 .
• Nakamura M, Yamamoto S, Okada M, etal . Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease . Ophthalmology . 111 . 7 . 1410–4 . 2004 . 15234147 . 10.1016/j.ophtha.2003.11.006 .
• Saga M, Mashima Y, Kudoh J, etal . Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease . Jpn. J. Ophthalmol. . 48 . 4 . 350–2 . 2004 . 15295660 . 10.1007/s10384-004-0070-2 . 23424425 .

Notes and References

1. Yamaki K, Tsuda M, Kikuchi T, Chen KH, Huang KP, Shinohara T . Structural organization of the human S-antigen gene. cDNA, amino acid, intron, exon, promoter, in vitro transcription, retina, and pineal gland . J Biol Chem . 265 . 34 . 20757–62 . Jan 1991 . 10.1016/S0021-9258(17)45280-X . 2249983 . free .
2. Web site: Entrez Gene: SAG S-antigen; retina and pineal gland (arrestin).