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OAS1

Mammalian protein found in Homo sapiens

2'-5'-oligoadenylate synthetase 1 is an enzyme that in humans is encoded by the OAS1 gene.

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. Alternatively spliced transcript variants encoding different isoforms have been described.

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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.
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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.
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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.

References

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. /wiki/Doi_(identifier) ↩
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. /wiki/Doi_(identifier) ↩
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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8392508 ↩
"Entrez Gene: OAS1 2',5'-oligoadenylate synthetase 1, 40/46kDa". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4938 ↩

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References