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OAS1

Chr 12q24.13

2'-5'-oligoadenylate synthetase 1

Aliases:
OIASI, IFI-4
MANE:
ENST00000202917.10

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Childhood interstitial lung disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • COVID-19 research

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • pulmonary alveolar proteinosis with hypogammaglobulinemia

    0.71
  • COVID-19

    0.57
  • respiratory failure

    0.33
  • neurodegenerative disease

    0.32
  • middle ear disorder

    0.30
  • Abnormal mastoid morphology

    0.30
  • spinal cord injury

    0.29
  • age-related macular degeneration

    0.28
  • systemic lupus erythematosus

    0.27
  • osteoarthritis

    0.25

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

2'-5'-oligoadenylate synthase 1

Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response (PubMed:34581622). In addition, it may also play a role in other cellular processes such as apoptosis, cell growth, differentiation and gene regulation. Catalyzes the formation of 2'-5'-oligoadenylates (2-5A) from polymerization of ATP which then bind to the inactive monomeric form of ribonuclease L (RNase L) leading to its dimerization and subsequent activation. Activation of RNase L leads to degradation of cellular as well as viral RNA, resulting in the inhibition of protein synthesis, thus terminating viral replication (PubMed:34145065, PubMed:34581622, PubMed:40010341). Involved in intercellular immune signaling that limits local spread of RNA virus infection and protects against tumorigenesis (PubMed:40010341). Can generate high levels of 2',5'-oligoadenylates in transformed cells, targeting them to innate and adaptive immunesurveillance mechanisms (PubMed:40010341). Can mediate the antiviral effect via the classical RNase L-dependent pathway or an alternative antiviral pathway independent of RNase L. The secreted form displays antiviral effect against vesicular stomatitis virus (VSV), herpes simplex virus type 2 (HSV-2), and encephalomyocarditis virus (EMCV) and stimulates the alternative antiviral pathway independent of RNase L

Curated MONDO disease pages that list OAS1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.