SAG (gene): Difference between revisions
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{{ | '''S-arrestin''' is a [[protein]] that in humans is encoded by the ''SAG'' [[gene]].<ref name="pmid2249983">{{cite journal | vauthors = Yamaki K, Tsuda M, Kikuchi T, Chen KH, Huang KP, Shinohara T | title = Structural organization of the human S-antigen gene. cDNA, amino acid, intron, exon, promoter, in vitro transcription, retina, and pineal gland | journal = J Biol Chem | volume = 265 | issue = 34 | pages = 20757–62 |date=Jan 1991 | pmid = 2249983 | pmc = | doi = }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SAG S-antigen; retina and pineal gland (arrestin)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6295| accessdate = }}</ref> | ||
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| summary_text = 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 photoreceptor protein 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.<ref name="entrez" | | summary_text = 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 photoreceptor protein 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.<ref name="entrez" /> | ||
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==References== | ==References== | ||
{{reflist | {{reflist}} | ||
==Further reading== | ==Further reading== | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
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| citations = | | citations = | ||
*{{cite journal | | *{{cite journal | vauthors=Ghalayini AJ, Anderson RE |title=Activation of bovine rod outer segment phospholipase C by arrestin |journal=J. Biol. Chem. |volume=267 |issue= 25 |pages= 17977–82 |year= 1992 |pmid= 1325454 |doi= }} | ||
*{{cite journal | | *{{cite journal | vauthors=Huang SK, Klein DC, Korf HW |title=Immunocytochemical demonstration of rod-opsin, S-antigen, and neuron-specific proteins in the human pineal gland |journal=Cell Tissue Res. |volume=267 |issue= 3 |pages= 493–8 |year= 1992 |pmid= 1533347 |doi=10.1007/BF00319371 }} | ||
*{{cite journal | | *{{cite journal | vauthors=Palczewski K, Pulvermüller A, Buczyłko J, Hofmann KP |title=Phosphorylated rhodopsin and heparin induce similar conformational changes in arrestin |journal=J. Biol. Chem. |volume=266 |issue= 28 |pages= 18649–54 |year= 1991 |pmid= 1917988 |doi= }} | ||
*{{cite journal | *{{cite journal |vauthors=Palczewski K, McDowell JH, Jakes S, etal |title=Regulation of rhodopsin dephosphorylation by arrestin |journal=J. Biol. Chem. |volume=264 |issue= 27 |pages= 15770–3 |year= 1989 |pmid= 2550422 |doi= }} | ||
*{{cite journal | | *{{cite journal | vauthors=Yamaki K, Tsuda M, Shinohara T |title=The sequence of human retinal S-antigen reveals similarities with alpha-transducin |journal=FEBS Lett. |volume=234 |issue= 1 |pages= 39–43 |year= 1988 |pmid= 3164688 |doi=10.1016/0014-5793(88)81298-5 }} | ||
*{{cite journal | *{{cite journal |vauthors=Adams MD, Kerlavage AR, Fleischmann RD, etal |title=Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence |journal=Nature |volume=377 |issue= 6547 Suppl |pages= 3–174 |year= 1995 |pmid= 7566098 |doi=<!-- none available --> |url=http://www.columbia.edu/itc/biology/pollack/w4065/client_edit/readings/nature377_3.pdf | format=PDF }} | ||
*{{cite journal |vauthors=Fuchs S, Nakazawa M, Maw M, etal |title=A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese |journal=Nat. Genet. |volume=10 |issue= 3 |pages= 360–2 |year= 1995 |pmid= 7670478 |doi= 10.1038/ng0795-360 }} | |||
*{{cite journal | *{{cite journal |vauthors=Calabrese G, Sallese M, Stornaiuolo A, etal |title=Chromosome mapping of the human arrestin (SAG), beta-arrestin 2 (ARRB2), and beta-adrenergic receptor kinase 2 (ADRBK2) genes |journal=Genomics |volume=23 |issue= 1 |pages= 286–8 |year= 1995 |pmid= 7695743 |doi= 10.1006/geno.1994.1497 }} | ||
*{{cite journal | *{{cite journal |vauthors=Diviani D, Lattion AL, Larbi N, etal |title=Effect of different G protein-coupled receptor kinases on phosphorylation and desensitization of the alpha1B-adrenergic receptor |journal=J. Biol. Chem. |volume=271 |issue= 9 |pages= 5049–58 |year= 1996 |pmid= 8617782 |doi=10.1074/jbc.271.9.5049 }} | ||
*{{cite journal | | *{{cite journal | vauthors=Yamamoto S, Sippel KC, Berson EL, Dryja TP |title=Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness |journal=Nat. Genet. |volume=15 |issue= 2 |pages= 175–8 |year= 1997 |pmid= 9020843 |doi= 10.1038/ng0297-175 }} | ||
*{{cite journal | | *{{cite journal | vauthors=Sippel KC, DeStefano JD, Berson EL, Dryja TP |title=Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness |journal=Invest. Ophthalmol. Vis. Sci. |volume=39 |issue= 3 |pages= 665–70 |year= 1998 |pmid= 9501883 |doi= }} | ||
*{{cite journal | *{{cite journal |vauthors=Andersen PS, Lavoie PM, Sékaly RP, etal |title=Role of the T cell receptor alpha chain in stabilizing TCR-superantigen-MHC class II complexes |journal=Immunity |volume=10 |issue= 4 |pages= 473–83 |year= 1999 |pmid= 10229190 |doi=10.1016/S1074-7613(00)80047-3 }} | ||
*{{cite journal | | *{{cite journal | vauthors=Lee KB, Ptasienski JA, Bunemann M, Hosey MM |title=Acidic amino acids flanking phosphorylation sites in the M2 muscarinic receptor regulate receptor phosphorylation, internalization, and interaction with arrestins |journal=J. Biol. Chem. |volume=275 |issue= 46 |pages= 35767–77 |year= 2000 |pmid= 10952973 |doi= 10.1074/jbc.M002225200 }} | ||
*{{cite journal | *{{cite journal |vauthors=Wistow G, Bernstein SL, Wyatt MK, etal |title=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 |journal=Mol. Vis. |volume=8 |issue= |pages= 196–204 |year= 2002 |pmid= 12107411 |doi= }} | ||
*{{cite journal | *{{cite journal |vauthors=Zhu X, Li A, Brown B, etal |title=Mouse cone arrestin expression pattern: light induced translocation in cone photoreceptors |journal=Mol. Vis. |volume=8 |issue= |pages= 462–71 |year= 2002 |pmid= 12486395 |doi= }} | ||
*{{cite journal |vauthors=Zhang H, Cuenca N, Ivanova T, etal |title=Identification and light-dependent translocation of a cone-specific antigen, cone arrestin, recognized by monoclonal antibody 7G6 |journal=Invest. Ophthalmol. Vis. Sci. |volume=44 |issue= 7 |pages= 2858–67 |year= 2003 |pmid= 12824223 |doi=10.1167/iovs.03-0072 }} | |||
*{{cite journal | vauthors=Chuang JZ, Vega C, Jun W, Sung CH |title=Structural and functional impairment of endocytic pathways by retinitis pigmentosa mutant rhodopsin-arrestin complexes |journal=J. Clin. Invest. |volume=114 |issue= 1 |pages= 131–40 |year= 2004 |pmid= 15232620 |doi= 10.1172/jci21136 | pmc=437971 }} | |||
*{{cite journal |vauthors=Nakamura M, Yamamoto S, Okada M, etal |title=Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease |journal=Ophthalmology |volume=111 |issue= 7 |pages= 1410–4 |year= 2004 |pmid= 15234147 |doi= 10.1016/j.ophtha.2003.11.006 }} | |||
*{{cite journal | *{{cite journal |vauthors=Saga M, Mashima Y, Kudoh J, etal |title=Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease |journal=Jpn. J. Ophthalmol. |volume=48 |issue= 4 |pages= 350–2 |year= 2004 |pmid= 15295660 |doi= 10.1007/s10384-004-0070-2 }} | ||
*{{cite journal | |||
}} | }} | ||
{{refend}} | {{refend}} | ||
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External IDs | GeneCards: [1] | ||||||
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Species | Human | Mouse | |||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (mRNA) |
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Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
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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 photoreceptor protein 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.[2]
References
- ↑ Yamaki K, Tsuda M, Kikuchi T, Chen KH, Huang KP, Shinohara T (Jan 1991). "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. PMID 2249983.
- ↑ 2.0 2.1 "Entrez Gene: SAG S-antigen; retina and pineal gland (arrestin)".
Further reading
- Ghalayini AJ, Anderson RE (1992). "Activation of bovine rod outer segment phospholipase C by arrestin". J. Biol. Chem. 267 (25): 17977–82. PMID 1325454.
- Huang SK, Klein DC, Korf HW (1992). "Immunocytochemical demonstration of rod-opsin, S-antigen, and neuron-specific proteins in the human pineal gland". Cell Tissue Res. 267 (3): 493–8. doi:10.1007/BF00319371. PMID 1533347.
- Palczewski K, Pulvermüller A, Buczyłko J, Hofmann KP (1991). "Phosphorylated rhodopsin and heparin induce similar conformational changes in arrestin". J. Biol. Chem. 266 (28): 18649–54. PMID 1917988.
- Palczewski K, McDowell JH, Jakes S, et al. (1989). "Regulation of rhodopsin dephosphorylation by arrestin". J. Biol. Chem. 264 (27): 15770–3. PMID 2550422.
- Yamaki K, Tsuda M, Shinohara T (1988). "The sequence of human retinal S-antigen reveals similarities with alpha-transducin". FEBS Lett. 234 (1): 39–43. doi:10.1016/0014-5793(88)81298-5. PMID 3164688.
- Adams MD, Kerlavage AR, Fleischmann RD, et al. (1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence" (PDF). Nature. 377 (6547 Suppl): 3–174. PMID 7566098.
- Fuchs S, Nakazawa M, Maw M, et al. (1995). "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. doi:10.1038/ng0795-360. PMID 7670478.
- Calabrese G, Sallese M, Stornaiuolo A, et al. (1995). "Chromosome mapping of the human arrestin (SAG), beta-arrestin 2 (ARRB2), and beta-adrenergic receptor kinase 2 (ADRBK2) genes". Genomics. 23 (1): 286–8. doi:10.1006/geno.1994.1497. PMID 7695743.
- Diviani D, Lattion AL, Larbi N, et al. (1996). "Effect of different G protein-coupled receptor kinases on phosphorylation and desensitization of the alpha1B-adrenergic receptor". J. Biol. Chem. 271 (9): 5049–58. doi:10.1074/jbc.271.9.5049. PMID 8617782.
- Yamamoto S, Sippel KC, Berson EL, Dryja TP (1997). "Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness". Nat. Genet. 15 (2): 175–8. doi:10.1038/ng0297-175. PMID 9020843.
- Sippel KC, DeStefano JD, Berson EL, Dryja TP (1998). "Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness". Invest. Ophthalmol. Vis. Sci. 39 (3): 665–70. PMID 9501883.
- Andersen PS, Lavoie PM, Sékaly RP, et al. (1999). "Role of the T cell receptor alpha chain in stabilizing TCR-superantigen-MHC class II complexes". Immunity. 10 (4): 473–83. doi:10.1016/S1074-7613(00)80047-3. PMID 10229190.
- Lee KB, Ptasienski JA, Bunemann M, Hosey MM (2000). "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. doi:10.1074/jbc.M002225200. PMID 10952973.
- Wistow G, Bernstein SL, Wyatt MK, et al. (2002). "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. PMID 12107411.
- Zhu X, Li A, Brown B, et al. (2002). "Mouse cone arrestin expression pattern: light induced translocation in cone photoreceptors". Mol. Vis. 8: 462–71. PMID 12486395.
- Zhang H, Cuenca N, Ivanova T, et al. (2003). "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. doi:10.1167/iovs.03-0072. PMID 12824223.
- Chuang JZ, Vega C, Jun W, Sung CH (2004). "Structural and functional impairment of endocytic pathways by retinitis pigmentosa mutant rhodopsin-arrestin complexes". J. Clin. Invest. 114 (1): 131–40. doi:10.1172/jci21136. PMC 437971. PMID 15232620.
- Nakamura M, Yamamoto S, Okada M, et al. (2004). "Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease". Ophthalmology. 111 (7): 1410–4. doi:10.1016/j.ophtha.2003.11.006. PMID 15234147.
- Saga M, Mashima Y, Kudoh J, et al. (2004). "Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease". Jpn. J. Ophthalmol. 48 (4): 350–2. doi:10.1007/s10384-004-0070-2. PMID 15295660.
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