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OAS1

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OAS1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

4IG8

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
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)
Chromosome 12 (human)Genomic location for OAS1Genomic location for OAS1
Band12q24.13Start112,905,856 bp
End112,933,219 bp
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)
Chromosome 5 (mouse)Genomic location for OAS1Genomic location for OAS1
Band5 F|5 60.65 cMStart121,034,319 bp
End121,045,584 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • monocyte

  • mucosa of transverse colon

  • granulocyte

  • rectum

  • mucosa of esophagus

  • mucosa of ileum

  • spleen

  • gallbladder

  • nasal epithelium

  • right lobe of liver
Top expressed in
  • granulocyte

  • jejunum

  • ileum

  • colon

  • duodenum

  • placenta

  • yolk sac

  • blastocyst

  • thymus

  • bone marrow
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

4938

246730

Ensembl

ENSG00000089127

ENSMUSG00000052776

UniProt

P00973

P11928

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
Wikidata
View/Edit HumanView/Edit Mouse

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.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000089127Ensembl, May 2017
  2. ^ 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, 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.
  6. 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.
  7. 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.
  8. "Entrez Gene: OAS1 2',5'-oligoadenylate synthetase 1, 40/46kDa".

Further reading

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