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GeneE
27 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
OAS1
2'-5'-oligoadenylate synthetase 1
Chromosome 12 Β· 12q24.13
NCBI Gene: 4938Ensembl: ENSG00000089127.15HGNC: HGNC:8086UniProt: A0A6Q8PHR1
166PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasm2'-5'-oligoadenylate synthetase activitydouble-stranded RNA bindingprotein bindingpulmonary alveolar proteinosis with hypogammaglobulinemiaCOVID-19respiratory failurespinal cord injury
✦AI Summary

OAS1 (2'-5'-oligoadenylate synthetase 1) is a cytosolic double-stranded RNA sensor that functions as a key component of the innate antiviral immune response 1. Upon binding dsRNA, OAS1 catalyzes the synthesis of 2'-5'-oligoadenylates (2-5A), which activate ribonuclease L (RNase L) to degrade single-stranded RNA and restrict viral replication 1. The protein shares structural similarity with cGAS, containing a unique zinc thumb for DNA recognition, though OAS1 specifically responds to dsRNA stimuli 2. OAS1 expression is induced by type I interferons and plays regulatory roles in immune cell function, particularly in monocytes and macrophages 34. Disease relevance includes autosomal recessive OAS1 deficiency causing multisystem inflammatory syndrome in children (MIS-C) following COVID-19, where deficient cells produce excessive inflammatory cytokines upon SARS-CoV-2 stimulation 1. Conversely, gain-of-function OAS1 variants cause autoinflammatory immunodeficiency with recurrent fever, dermatitis, and pulmonary alveolar proteinosis through dsRNA-independent activation leading to inappropriate RNase L-mediated cell dysfunction 3. OAS1 also correlates with metabolic pathways and has been identified as a biomarker in systemic lupus erythematosus, highlighting its broader role in immune-metabolic interactions 45.

Sources cited
1
OAS1 is a cytosolic dsRNA sensor that generates 2-5A to activate RNase L, and its deficiency causes excessive cytokine production in MIS-C
PMID: 36538032
2
OAS1 shares structural similarity with cGAS but contains a unique zinc thumb and functions in dsRNA sensing
PMID: 23722159
3
Gain-of-function OAS1 variants cause autoinflammatory immunodeficiency through dsRNA-independent activation and cell dysfunction
PMID: 34145065
4
OAS1 is expressed by monocytes and correlates with cholesterol and xenobiotic metabolism pathways
PMID: 36341378
5
OAS1 is identified as a differentially expressed gene and biomarker in systemic lupus erythematosus
PMID: 33468161
Disease Associationsβ“˜21
pulmonary alveolar proteinosis with hypogammaglobulinemiaOpen Targets
0.64Moderate
COVID-19Open Targets
0.58Moderate
respiratory failureOpen Targets
0.33Weak
spinal cord injuryOpen Targets
0.32Weak
neurodegenerative diseaseOpen Targets
0.32Weak
Abnormal mastoid morphologyOpen Targets
0.32Weak
middle ear disorderOpen Targets
0.32Weak
systemic lupus erythematosusOpen Targets
0.28Weak
age-related macular degenerationOpen Targets
0.28Weak
osteoarthritisOpen Targets
0.27Weak
major depressive disorderOpen Targets
0.14Weak
goutOpen Targets
0.13Weak
alcoholic liver diseaseOpen Targets
0.12Weak
neoplasmOpen Targets
0.10Weak
cancerOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.09Suggestive
MODYOpen Targets
0.08Suggestive
infectionOpen Targets
0.07Suggestive
Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemiaUniProt
Pathogenic Variants2
NM_016816.4(OAS1):c.592C>G (p.Leu198Val)Likely pathogenic
Pulmonary alveolar proteinosis with hypogammaglobulinemia|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 198
NM_016816.4(OAS1):c.362T>G (p.Val121Gly)Pathogenic
Pulmonary alveolar proteinosis with hypogammaglobulinemia
β˜†β˜†β˜†β˜†2022β†’ Residue 121
View on ClinVar β†—
Related Genes
GBP1Protein interaction99%SP110Protein interaction99%LY6EProtein interaction99%IFI6Protein interaction96%IFI27Protein interaction96%IFIT2Protein interaction96%
Tissue Expression6 tissues
Liver
100%
Lung
61%
Heart
35%
Bone Marrow
27%
Ovary
22%
Brain
9%
Gene Interaction Network
Click a node to explore
OAS1GBP1SP110LY6EIFI6IFI27IFIT2
PROTEIN STRUCTURE
Preparing viewer…
PDB4IG8 Β· 2.70 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.82LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.57 [0.41–0.82]
RankingsWhere OAS1 stands among ~20K protein-coding genes
  • #2,694of 20,598
    Most Researched166 Β· top quartile
  • #4,261of 5,498
    Most Pathogenic Variants2
  • #6,903of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedOAS1
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
The shared biomarkers and pathways of systemic lupus erythematosus and metabolic syndrome analyzed by bioinformatics combining machine learning algorithm and single-cell sequencing analysis.
PMID: 36341378
Front Immunol Β· 2022
1.00
2
Identification of key biomarkers and immune infiltration in systemic lupus erythematosus by integrated bioinformatics analysis.
PMID: 33468161
J Transl Med Β· 2021
0.90
3
Structural mechanism of cytosolic DNA sensing by cGAS.
PMID: 23722159
Nature Β· 2013
0.80
4
Mpox virus poxin-schlafen fusion protein suppresses innate antiviral response by sequestering STAT2.
PMID: 40066622
Emerg Microbes Infect Β· 2025
0.76
5
Genetic mechanisms of critical illness in COVID-19.
PMID: 33307546
Nature Β· 2021
0.72