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    OAS1 2'-5'-oligoadenylate synthetase 1 [ Homo sapiens (human) ]

    Gene ID: 4938, updated on 3-Apr-2024

    Summary

    Official Symbol
    OAS1provided by HGNC
    Official Full Name
    2'-5'-oligoadenylate synthetase 1provided by HGNC
    Primary source
    HGNC:HGNC:8086
    See related
    Ensembl:ENSG00000089127 MIM:164350; AllianceGenome:HGNC:8086
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OIAS; IFI-4; OIASI; IMD100; E18/E16
    Summary
    This interferon-induced gene encodes a protein that synthesizes 2',5'-oligoadenylates (2-5As). This protein plays a key role in innate cellular antiviral response, and has been implicated in other cellular processes like cell growth and apoptosis. Alternative splicing results in multiple transcript variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection, including SARS-CoV-2, and diabetes mellitus, type 1. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, May 2022]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
    Expression
    Ubiquitous expression in spleen (RPKM 18.0), colon (RPKM 15.8) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    12q24.13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (112906962..112933219)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (112883649..112909905)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (113344767..113371024)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene protein tyrosine phosphatase non-receptor type 11 Neighboring gene uncharacterized LOC124903024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112954684-112955184 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:113015949-113016468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113018366-113018890 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:113039985-113040713 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:113055106-113055606 Neighboring gene rabphilin 3A Neighboring gene NANOG hESC enhancer GRCh37_chr12:113079622-113080142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113147969-113148469 Neighboring gene microRNA 1302-1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:113185662-113186162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113229645-113230186 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:113306366-113306564 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7052 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24142 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_24146 and experimental_24152 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24159 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24163 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_24171 and experimental_24176 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_24215 and experimental_24231 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_24264 and experimental_24270 Neighboring gene Sharpr-MPRA regulatory region 3381 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_24293 and experimental_24295 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_24298, experimental_24301 and experimental_24306 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_24317/24320 and experimental_24338 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_24357 and experimental_24368 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24404 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24448 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_24456 and experimental_24461 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24463 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24487 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7053 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4887 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24515 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24520 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24535 Neighboring gene MPRA-validated peak1965 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113400746-113401246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113401247-113401747 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24547 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7054 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7057 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24560 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24566 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24567 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:113444541-113445740 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24568 Neighboring gene 2'-5'-oligoadenylate synthetase 3 Neighboring gene 2'-5'-oligoadenylate synthetase 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Pulmonary alveolar proteinosis with hypogammaglobulinemia
    MedGen: C4747984 OMIM: 618042 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.
    EBI GWAS Catalog
    Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates the expression of 2'-5'-oligoadenylate synthetase 1 (OAS1) in human B cells PubMed
    Nef nef Production of infectious triple deletion vpr/vpu/nef HIV-1 mutant is suppressed, indicating that Nef may antagonize restriction activity of OAS1 against production of infectious wild-type HIV-1 PubMed
    Tat tat HIV-1 and the viral protein Tat modulate the expression of 2',5'-oligoadenylate synthetase 1, 40/46kDa (OAS1) in immature dendritic cells and monocyte-derived macrophages PubMed
    tat HIV-1 Tat interacts with interferon-inducible enzymes 2-5A synthetase and dsRNA-dependent protein kinase to influence the rate of translation and protein synthesis in vitro PubMed
    Vpr vpr Production of infectious triple deletion vpr/vpu/nef HIV-1 mutant is suppressed, indicating that Vpr may antagonize restriction activity of OAS1 against production of infectious wild-type HIV-1 PubMed
    Vpu vpu Production of infectious triple deletion vpr/vpu/nef HIV-1 mutant is suppressed, indicating that Vpu may antagonize restriction activity of OAS1 against production of infectious wild-type HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 2'-5'-oligoadenylate synthetase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables 2'-5'-oligoadenylate synthetase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables double-stranded RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables double-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in antiviral innate immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in antiviral innate immune response IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to interferon-beta IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to virus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in defense response to bacterium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in defense response to virus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in defense response to virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glucose homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glucose metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in interleukin-27-mediated signaling pathway IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in negative regulation of IP-10 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of chemokine (C-X-C motif) ligand 2 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of type I interferon-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of viral genome replication IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of viral genome replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interferon-beta production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of monocyte chemotactic protein-1 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of tumor necrosis factor production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of ribonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of ribonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in surfactant homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in toll-like receptor 3 signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in toll-like receptor 4 signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    2'-5'-oligoadenylate synthase 1
    Names
    (2-5')oligo(A) synthase 1
    2',5'-oligo A synthetase 1
    2'-5'-oligoadenylate synthase 1 isoform p42
    2'-5'-oligoadenylate synthetase 1, 40/46kDa
    2'-5'-oligoisoadenylate synthetase 1
    2-5A synthase 1
    2-5A synthetase 1
    E16 (2'-5') oligo A synthetase
    NP_001027581.1
    NP_001307080.1
    NP_001392949.1
    NP_001392950.1
    NP_001392951.1
    NP_001392952.1
    NP_001392953.1
    NP_001392954.1
    NP_001392955.1
    NP_001392956.1
    NP_001392958.1
    NP_001392959.1
    NP_001399157.1
    NP_002525.2
    NP_058132.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011530.2 RefSeqGene

      Range
      5029..17970
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001032409.3NP_001027581.1  2'-5'-oligoadenylate synthase 1 isoform 3

      See identical proteins and their annotated locations for NP_001027581.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 3 (also known as p48), which has a longer, distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AJ629455, AY730628, BF055326, CB112445
      Consensus CDS
      CCDS31905.1
      UniProtKB/TrEMBL
      S4R3A5
      Related
      ENSP00000388001.2, ENST00000445409.7
      Conserved Domains (2) summary
      cd05400
      Location:29211
      NT_2-5OAS_ClassI-CCAase; Nucleotidyltransferase (NT) domain of 2'5'-oligoadenylate (2-5A)synthetase (2-5OAS) and class I CCA-adding enzyme
      pfam10421
      Location:163343
      OAS1_C; 2'-5'-oligoadenylate synthetase 1, domain 2, C-terminus
    2. NM_001320151.2NP_001307080.1  2'-5'-oligoadenylate synthase 1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the allele encoded by the GRCh38 reference genome, and differs in the 3' coding region and 3' UTR compared to variant 1. It encodes isoform 4 (also known as p44b), which has a shorter, distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA085948, AC004551, AJ629455, CB112445
      Consensus CDS
      CCDS81742.1
      UniProtKB/TrEMBL
      A0A7P0T854
      Related
      ENSP00000448790.1, ENST00000551241.6
      Conserved Domains (2) summary
      cd05400
      Location:29211
      NT_2-5OAS_ClassI-CCAase; Nucleotidyltransferase (NT) domain of 2'5'-oligoadenylate (2-5A)synthetase (2-5OAS) and class I CCA-adding enzyme
      pfam10421
      Location:163343
      OAS1_C; 2'-5'-oligoadenylate synthetase 1, domain 2, C-terminus
    3. NM_001406020.1NP_001392949.1  2'-5'-oligoadenylate synthase 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC004551
    4. NM_001406021.1NP_001392950.1  2'-5'-oligoadenylate synthase 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC004551
      Consensus CDS
      CCDS91755.1
      UniProtKB/TrEMBL
      A0A7P0Z4N8
      Related
      ENSP00000506580.1, ENST00000681700.1
    5. NM_001406022.1NP_001392951.1  2'-5'-oligoadenylate synthase 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC004551
      Consensus CDS
      CCDS91752.1
      UniProtKB/TrEMBL
      H0YIB8
      Related
      ENSP00000449053.2, ENST00000553152.2
    6. NM_001406023.1NP_001392952.1  2'-5'-oligoadenylate synthase 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC004551
    7. NM_001406024.1NP_001392953.1  2'-5'-oligoadenylate synthase 1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC004551
      UniProtKB/TrEMBL
      A0A6Q8PHR1
      Related
      ENSP00000502804.1, ENST00000675868.2
    8. NM_001406025.1NP_001392954.1  2'-5'-oligoadenylate synthase 1 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC004551
    9. NM_001406026.1NP_001392955.1  2'-5'-oligoadenylate synthase 1 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC004551
      UniProtKB/TrEMBL
      A0A7P0T9Q4
      Related
      ENSP00000505786.1, ENST00000679971.1
    10. NM_001406027.1NP_001392956.1  2'-5'-oligoadenylate synthase 1 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC004551
      UniProtKB/TrEMBL
      A0A7P0T8F9
      Related
      ENSP00000505165.1, ENST00000680455.1
    11. NM_001406029.1NP_001392958.1  2'-5'-oligoadenylate synthase 1 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC004551
    12. NM_001406030.1NP_001392959.1  2'-5'-oligoadenylate synthase 1 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC004551
    13. NM_001412228.1NP_001399157.1  2'-5'-oligoadenylate synthase 1 isoform 15

      Status: REVIEWED

      Description
      Transcript Variant: This variant (24) uses the same exon combination as variant 4 but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. The encoded isoform (15) has a frameshifted C-terminus compared to isoform 4.
      Source sequence(s)
      CP068266
    14. NM_002534.4NP_002525.2  2'-5'-oligoadenylate synthase 1 isoform 2

      See identical proteins and their annotated locations for NP_002525.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR compared to variant 1. It encodes isoform 2 (also known as E16, p40, or p42), which has a shorter, distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC004551, BC061587, BE048946, CB112445
      Consensus CDS
      CCDS44980.1
      UniProtKB/TrEMBL
      A0A7P0T854
      Related
      ENSP00000415721.2, ENST00000452357.7
      Conserved Domains (2) summary
      cd05400
      Location:29211
      NT_2-5OAS_ClassI-CCAase; Nucleotidyltransferase (NT) domain of 2'5'-oligoadenylate (2-5A)synthetase (2-5OAS) and class I CCA-adding enzyme
      pfam10421
      Location:163343
      OAS1_C; 2'-5'-oligoadenylate synthetase 1, domain 2, C-terminus
    15. NM_016816.4NP_058132.2  2'-5'-oligoadenylate synthase 1 isoform 1

      See identical proteins and their annotated locations for NP_058132.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. It encodes isoform 1 (also known as E18 and p46). This variant is produced in individuals with a G allele at a polymorphic splice acceptor site in the 3' most intron(PMID:15732009).
      Source sequence(s)
      AJ629455, AK225384, CB112445
      Consensus CDS
      CCDS41838.1
      UniProtKB/Swiss-Prot
      A8K4N8, F8VXY3, P00973, P04820, P29080, P29081, P78485, P78486, Q16700, Q16701, Q1PG42, Q3ZM01, Q53GC5, Q53YA4, Q6A1Z3, Q6IPC6, Q6P7N9, Q96J61
      UniProtKB/TrEMBL
      A0A7P0TBG0
      Related
      ENSP00000202917.5, ENST00000202917.10
      Conserved Domains (2) summary
      cd05400
      Location:29211
      NT_2-5OAS_ClassI-CCAase; Nucleotidyltransferase (NT) domain of 2'5'-oligoadenylate (2-5A)synthetase (2-5OAS) and class I CCA-adding enzyme
      pfam10421
      Location:163343
      OAS1_C; 2'-5'-oligoadenylate synthetase 1, domain 2, C-terminus

    RNA

    1. NR_175985.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC004551
    2. NR_175986.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC004551
      Related
      ENST00000681505.1
    3. NR_175987.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC004551
    4. NR_175988.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC004551
    5. NR_175989.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC004551
    6. NR_175990.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC004551
      Related
      ENST00000680934.1
    7. NR_175991.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC004551
    8. NR_175992.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC004551
      Related
      ENST00000680919.1
    9. NR_175993.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC004551

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      112906962..112933219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      112883649..112909905
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)