OAS1 (original) (raw)

From Wikipedia, the free encyclopedia

OAS1
Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes4IG8
Identifiers
Aliases OAS1, IFI-4, OIAS, OIASI, E18/E16, 2'-5'-oligoadenylate synthetase 1
External IDs OMIM: 164350; MGI: 2180860; HomoloGene: 1903; GeneCards: OAS1; OMA:OAS1 - orthologs
Gene location (Human)Chromosome 12 (human)Chr.Chromosome 12 (human)[1]Chromosome 12 (human)Genomic location for OAS1Genomic location for OAS1Band12q24.13Start112,905,856 bp[1]End112,933,219 bp[1]
Gene location (Mouse)Chromosome 5 (mouse)Chr.Chromosome 5 (mouse)[2]Chromosome 5 (mouse)Genomic location for OAS1Genomic location for OAS1Band5 F|5 60.65 cMStart121,034,319 bp[2]End121,045,584 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inmonocytemucosa of transverse colongranulocyterectummucosa of esophagusmucosa of ileumspleengallbladdernasal epitheliumright lobe of liverTop expressed ingranulocytejejunumileumcolonduodenumplacentayolk sacblastocystthymusbone marrowMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular function transferase activity nucleotide binding nucleotidyltransferase activity metal ion binding protein binding RNA binding double-stranded RNA binding ATP binding 2'-5'-oligoadenylate synthetase activity Cellular component cytoplasm intracellular membrane-bounded organelle extracellular region endoplasmic reticulum mitochondrion nucleus cytosol nucleoplasm Biological process purine nucleotide biosynthetic process regulation of ribonuclease activity glucose homeostasis interferon-gamma-mediated signaling pathway immune system process response to virus negative regulation of viral genome replication defense response to virus type I interferon signaling pathway protein complex oligomerization immune response glucose metabolic process cellular response to interferon-alpha innate immune response Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez4938246730EnsemblENSG00000089127ENSMUSG00000052776UniProtP00973P11928RefSeq (mRNA)NM_001032409NM_002534NM_016816NM_001320151NM_145211RefSeq (protein)NP_001027581NP_001307080NP_002525NP_058132NP_660212Location (UCSC)Chr 12: 112.91 – 112.93 MbChr 5: 121.03 – 121.05 MbPubMed 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]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000089127 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000052776 – Ensembl, 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".