Jump to content

OAS1

From Wikipedia, the free encyclopedia
OAS1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesOAS1, IFI-4, OIAS, OIASI, E18/E16, 2'-5'-oligoadenylate synthetase 1
External IDsOMIM: 164350; MGI: 2180860; HomoloGene: 1903; GeneCards: OAS1; OMA:OAS1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001032409
NM_002534
NM_016816
NM_001320151

NM_145211

RefSeq (protein)

NP_001027581
NP_001307080
NP_002525
NP_058132

NP_660212

Location (UCSC)Chr 12: 112.91 – 112.93 MbChr 5: 121.03 – 121.05 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000089127Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000052776Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Renault B, Hovnanian A, Bryce S, Chang JJ, Lau S, Sakuntabhai A, Monk S, Carter S, Ross CJ, Pang J, Twells R, Chamberlain S, Monaco AP, Strachan T, Kucherlapati R (Feb 1998). "A sequence-ready physical map of a region of 12q24.1". Genomics. 45 (2): 271–8. doi:10.1006/geno.1997.4888. PMID 9344649.
  6. ^ Nechiporuk T, Nechiporuk A, Sahba S, Figueroa K, Shibata H, Chen XN, Korenberg JR, de Jong P, Pulst SM (Nov 1997). "A high-resolution PAC and BAC map of the SCA2 region". Genomics. 44 (3): 321–9. doi:10.1006/geno.1997.4886. PMID 9325053.
  7. ^ Magg, T.; Okano, T.; Koenig, L. M.; Boehmer DFR; Schwartz, S. L.; Inoue, K.; Heimall, J.; Licciardi, F.; Ley-Zaporozhan, J.; Ferdman, R. M.; Caballero-Oteyza, A.; Park, E. N.; Calderon, B. M.; Dey, D.; Kanegane, H.; Cho, K.; Montin, D.; Reiter, K.; Griese, M.; Albert, M. H.; Rohlfs, M.; Gray, P.; Walz, C.; Conn, G. L.; Sullivan, K. E.; Klein, C.; Morio, T.; Hauck, F. (2021). "Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency". Sci Immunol. 6 (60): eabf9564. doi:10.1126/sciimmunol.abf9564. PMC 8392508. PMID 34145065.
  8. ^ "Entrez Gene: OAS1 2',5'-oligoadenylate synthetase 1, 40/46kDa".

Further reading

[edit]