OAS1
2'-5'-oligoadenylate synthetase 1 is an enzyme that in humans is encoded by the OAS1 gene.[5][6]
This gene encodes a member of the 2-5A synthetase family, which include essential proteins involved in the innate immune response to viral infection.
The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in both viral and endogenous RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Hypomorphic mutations in this gene have been associated with host susceptibility to viral infection, while gain-of-function variants can cause autoinflammatory immunodeficiency.[7] Alternatively spliced transcript variants encoding different isoforms have been described.[8]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000089127 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000052776 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Renault B, Hovnanian A, Bryce S, Chang JJ, Lau S, Sakuntabhai A, et al. (October 1997). "A sequence-ready physical map of a region of 12q24.1". Genomics. 45 (2): 271–278. doi:10.1006/geno.1997.4888. PMID 9344649.
- ^ Nechiporuk T, Nechiporuk A, Sahba S, Figueroa K, Shibata H, Chen XN, et al. (September 1997). "A high-resolution PAC and BAC map of the SCA2 region". Genomics. 44 (3): 321–329. doi:10.1006/geno.1997.4886. PMID 9325053.
- ^ Magg T, Okano T, Koenig LM, Boehmer DF, Schwartz SL, Inoue K, et al. (June 2021). "Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency". Science Immunology. 6 (60) eabf9564. doi:10.1126/sciimmunol.abf9564. PMC 8392508. PMID 34145065.
- ^ "Entrez Gene: OAS1 2',5'-oligoadenylate synthetase 1, 40/46kDa".
Further reading
- Justesen J, Hartmann R, Kjeldgaard NO (October 2000). "Gene structure and function of the 2'-5'-oligoadenylate synthetase family". Cellular and Molecular Life Sciences. 57 (11): 1593–1612. doi:10.1007/PL00000644. PMC 11146851. PMID 11092454. S2CID 19154357.
- Ghosh SK, Kusari J, Bandyopadhyay SK, Samanta H, Kumar R, Sen GC (August 1991). "Cloning, sequencing, and expression of two murine 2'-5'-oligoadenylate synthetases. Structure-function relationships". The Journal of Biological Chemistry. 266 (23): 15293–15299. doi:10.1016/S0021-9258(18)98615-1. PMID 1651324.
- Silverman RH, Sengupta DN (1991). "Translational regulation by HIV leader RNA, TAT, and interferon-inducible enzymes". Journal of Experimental Pathology. 5 (2): 69–77. PMID 1708818.
- Saunders ME, Gewert DR, Tugwell ME, McMahon M, Williams BR (July 1985). "Human 2-5A synthetase: characterization of a novel cDNA and corresponding gene structure". The EMBO Journal. 4 (7): 1761–1768. doi:10.1002/j.1460-2075.1985.tb03848.x. PMC 554415. PMID 2411547.
- Benech P, Mory Y, Revel M, Chebath J (September 1985). "Structure of two forms of the interferon-induced (2'-5') oligo A synthetase of human cells based on cDNAs and gene sequences". The EMBO Journal. 4 (9): 2249–2256. doi:10.1002/j.1460-2075.1985.tb03922.x. PMC 554493. PMID 2416561.
- Williams BR, Saunders ME, Willard HF (July 1986). "Interferon-regulated human 2-5A synthetase gene maps to chromosome 12". Somatic Cell and Molecular Genetics. 12 (4): 403–408. doi:10.1007/BF01570735. PMID 2426799. S2CID 13077134.
- Hovanessian AG, Laurent AG, Chebath J, Galabru J, Robert N, Svab J (May 1987). "Identification of 69-kd and 100-kd forms of 2-5A synthetase in interferon-treated human cells by specific monoclonal antibodies". The EMBO Journal. 6 (5): 1273–1280. doi:10.1002/j.1460-2075.1987.tb02364.x. PMC 553929. PMID 2440675.
- Rutherford MN, Hannigan GE, Williams BR (March 1988). "Interferon-induced binding of nuclear factors to promoter elements of the 2-5A synthetase gene". The EMBO Journal. 7 (3): 751–759. doi:10.1002/j.1460-2075.1988.tb02872.x. PMC 454386. PMID 2456211.
- Benech P, Vigneron M, Peretz D, Revel M, Chebath J (December 1987). "Interferon-responsive regulatory elements in the promoter of the human 2',5'-oligo(A) synthetase gene". Molecular and Cellular Biology. 7 (12): 4498–4504. doi:10.1128/MCB.7.12.4498. PMC 368134. PMID 2830497.
- Wathelet MG, Clauss IM, Nols CB, Content J, Huez GA (December 1987). "New inducers revealed by the promoter sequence analysis of two interferon-activated human genes". European Journal of Biochemistry. 169 (2): 313–321. doi:10.1111/j.1432-1033.1987.tb13614.x. PMID 3121313.
- Wathelet MG, Szpirer J, Nols CB, Clauss IM, De Wit L, Islam MQ, et al. (September 1988). "Cloning and chromosomal location of human genes inducible by type I interferon". Somatic Cell and Molecular Genetics. 14 (5): 415–426. doi:10.1007/BF01534709. PMID 3175763. S2CID 42406993.
- Wathelet M, Moutschen S, Cravador A, DeWit L, Defilippi P, Huez G, et al. (February 1986). "Full-length sequence and expression of the 42 kDa 2-5A synthetase induced by human interferon". FEBS Letters. 196 (1): 113–120. Bibcode:1986FEBSL.196..113W. doi:10.1016/0014-5793(86)80224-1. PMID 3753689. S2CID 38673605.
- Shiojiri S, Fukunaga R, Ichii Y, Sokawa Y (May 1986). "Structure and expression of a cloned cDNA for human (2'-5')oligoadenylate synthetase". Journal of Biochemistry. 99 (5): 1455–1464. doi:10.1093/oxfordjournals.jbchem.a135615. PMID 3754863.
- Merlin G, Chebath J, Benech P, Metz R, Revel M (August 1983). "Molecular cloning and sequence of partial cDNA for interferon-induced (2'-5')oligo(A) synthetase mRNA from human cells". Proceedings of the National Academy of Sciences of the United States of America. 80 (16): 4904–4908. Bibcode:1983PNAS...80.4904M. doi:10.1073/pnas.80.16.4904. PMC 384155. PMID 6348777.
- Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Ghosh A, Sarkar SN, Guo W, Bandyopadhyay S, Sen GC (December 1997). "Enzymatic activity of 2'-5'-oligoadenylate synthetase is impaired by specific mutations that affect oligomerization of the protein". The Journal of Biological Chemistry. 272 (52): 33220–33226. doi:10.1074/jbc.272.52.33220. PMID 9407111.
- Hovnanian A, Rebouillat D, Mattei MG, Levy ER, Marié I, Monaco AP, et al. (September 1998). "The human 2',5'-oligoadenylate synthetase locus is composed of three distinct genes clustered on chromosome 12q24.2 encoding the 100-, 69-, and 40-kDa forms". Genomics. 52 (3): 267–277. doi:10.1006/geno.1998.5443. PMID 9790745.
- Sarkar SN, Ghosh A, Wang HW, Sung SS, Sen GC (September 1999). "The nature of the catalytic domain of 2'-5'-oligoadenylate synthetases". The Journal of Biological Chemistry. 274 (36): 25535–25542. doi:10.1074/jbc.274.36.25535. PMID 10464285.
 | This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by adding missing information. |
Content Disclaimer
Informasi ini disarikan dari Wikipedia dan disajikan kembali untuk tujuan edukasi. Konten tersedia di bawah lisensi CC BY-SA 3.0. Kami tidak bertanggung jawab atas ketidakakuratan data yang bersumber dari kontribusi publik tersebut.
- The information displayed on this website is sourced in part or in whole from Wikipedia and has been adapted for the purpose of restating it. We strive to provide accurate and relevant information, however:
- There is no guarantee of absolute accuracy. Wikipedia is an open, collaborative project that can be edited by anyone, so information is subject to change.
- It is not intended to constitute professional advice. The content displayed is for informational and educational purposes only. For important decisions (e.g., medical, legal, or financial), please consult a professional.
- Content copyright. Wikipedia is licensed under the Creative Commons Attribution-ShareAlike License (CC BY-SA). This means that content may be reused with appropriate attribution and shared under a similar license.
- Responsible use. Any risk arising from the use of information from this website is entirely the responsibility of the user.