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    IFNAR1 interferon alpha and beta receptor subunit 1 [ Homo sapiens (human) ]

    Gene ID: 3454, updated on 11-Apr-2024

    Summary

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    Official Symbol
    IFNAR1provided by HGNC
    Official Full Name
    interferon alpha and beta receptor subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:5432
    See related
    Ensembl:ENSG00000142166 MIM:107450; AllianceGenome:HGNC:5432
    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
    AVP; IFRC; IFNAR; IFNBR; IMD106; IFN-alpha-REC
    Summary
    The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The protein belongs to the type II cytokine receptor family and functions as an antiviral factor. [provided by RefSeq, Jul 2020]
    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 thyroid (RPKM 14.1), urinary bladder (RPKM 11.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IFNAR1 in Genome Data Viewer
    Location:
    21q22.11
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (33324395..33359864)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (31696639..31732109)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (34696700..34732170)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene IFNAR2-IL10RB readthrough Neighboring gene interferon alpha and beta receptor subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18373 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18374 Neighboring gene IL10RB divergent transcript Neighboring gene interleukin 10 receptor subunit beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18375 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:34676441-34676940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13255 Neighboring gene IFNAR1 promoter region Neighboring gene upstream transcription factor 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 14728 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr21:34738709-34739908 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:34752348-34753547 Neighboring gene Sharpr-MPRA regulatory region 6397 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:34758349-34758554 Neighboring gene IFNGR2 promoter region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13257 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13259 Neighboring gene CRISPRi-FlowFISH-validated IFNGR2 regulatory element GRCh37_chr21:34776289-34777452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:34784507-34785261 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:34785395-34785563 Neighboring gene interferon gamma receptor 2 Neighboring gene transmembrane protein 50B Neighboring gene RPS5 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Correlation between IFNAR1 expression in peripheral blood T lymphocytes and inflammatory cytokines, tumor-infiltrating lymphocytes, and chemosensitivity in patients with colorectal cancer. Yang L, et al. Cytokine, 2022 Nov. PMID 36063748
    2. A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes. Bastard P, et al. J Exp Med, 2022 Jun 6. PMID 35442418, Free PMC Article
    3. Ifnar gene variants influence gut microbial production of palmitoleic acid and host immune responses to tuberculosis. Chen L, et al. Nat Metab, 2022 Mar. PMID 35288721
    4. IFNAR1 gene mutation may contribute to developmental stuttering in the Chinese population. Sun Y, et al. Hereditas, 2021 Nov 18. PMID 34794508, Free PMC Article
    5. A Case of Autosomal Recessive Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency with Severe COVID-19. Khanmohammadi S, et al. J Clin Immunol, 2022 Jan. PMID 34713375, Free PMC Article

    See all (195) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Detection of interferon alpha and beta receptor subunit 1 (IFNAR1) loss-of-function Glu386 * variant by tri-allelic genotyping.
      Title: Detection of interferon alpha and beta receptor subunit 1 (IFNAR1) loss-of-function Glu386∗ variant by tri-allelic genotyping.
    2. Association of IFNAR1 and IFNAR2 with COVID-19 severity.
      Title: Association of IFNAR1 and IFNAR2 with COVID-19 severity.
    3. CK1alpha upregulates the IFNAR1 expression to prompt the anti-HBV effect of type I IFN in hepatoma carcinoma cells.
      Title: CK1α upregulates the IFNAR1 expression to prompt the anti-HBV effect of type I IFN in hepatoma carcinoma cells.
    4. Correlation between IFNAR1 expression in peripheral blood T lymphocytes and inflammatory cytokines, tumor-infiltrating lymphocytes, and chemosensitivity in patients with colorectal cancer.
      Title: Correlation between IFNAR1 expression in peripheral blood T lymphocytes and inflammatory cytokines, tumor-infiltrating lymphocytes, and chemosensitivity in patients with colorectal cancer.
    5. Beyond fusion: A novel role for ERVW-1 in trophoblast proliferation and type I interferon receptor expression.
      Title: Beyond fusion: A novel role for ERVW-1 in trophoblast proliferation and type I interferon receptor expression.
    6. A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes.
      Title: A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes.
    7. Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.
      Title: Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.
    8. Ifnar gene variants influence gut microbial production of palmitoleic acid and host immune responses to tuberculosis.
      Title: Ifnar gene variants influence gut microbial production of palmitoleic acid and host immune responses to tuberculosis.
    9. Expression analysis of IFNAR1 and TYK2 transcripts in COVID-19 patients.
      Title: Expression analysis of IFNAR1 and TYK2 transcripts in COVID-19 patients.
    10. A Case of Autosomal Recessive Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency with Severe COVID-19.
      Title: A Case of Autosomal Recessive Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency with Severe COVID-19.
    Submit: New GeneRIF Correction See all GeneRIFs (127)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Immunodeficiency 106, susceptibility to viral infections
    MedGen: C5677009 OMIM: 619935 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Seven-day cultured macrophages treated with HIV-1 gp120 exhibit higher levels of type I IFN receptors than that of 1-day cultured monocytes PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables JAK pathway signal transduction adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables JAK pathway signal transduction adaptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables cytokine binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables type I interferon binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables type I interferon receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables type I interferon receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables type I interferon receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell surface receptor signaling pathway via JAK-STAT IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to interferon-alpha ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to interferon-beta IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to virus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of cellular respiration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of receptor signaling pathway via JAK-STAT IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to lipopolysaccharide ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to virus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in type I interferon-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in type I interferon-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in type I interferon-mediated signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in late endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    interferon alpha/beta receptor 1
    Names
    CRF2-1
    IFN-R-1
    IFN-alpha/beta receptor 1
    IFNalpha/beta receptor 1
    alpha-type antiviral protein
    beta-type antiviral protein
    cytokine receptor class-II member 1
    cytokine receptor family 2 member 1
    interferon (alpha, beta and omega) receptor 1
    interferon receptor 1
    interferon-alpha/beta receptor alpha chain
    interferon-beta receptor 1
    type I interferon receptor 1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_000629.3 → NP_000620.2  interferon alpha/beta receptor 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_000620.2

      Status: REVIEWED

      Source sequence(s)
      AK123813, AP000298, BC021825, BC035603, BG116121, BG548299, BX537636, CA309858, J03171, R15745
      Consensus CDS
      CCDS13624.1
      UniProtKB/Swiss-Prot
      B2R6L9, B4DNT3, D3DSF0, P17181, Q53GW9, Q53H11, Q6PKD7, Q7M4L2, Q8WTZ2
      UniProtKB/TrEMBL
      C9J114
      Related
      ENSP00000270139.3, ENST00000270139.8
      Conserved Domains (2) summary
      pfam09294
      Location:126 → 224
      Interfer-bind; Interferon-alpha/beta receptor, fibronectin type III
      cl21522
      Location:25 → 114
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

    2. NM_001384498.1 → NP_001371427.1  interferon alpha/beta receptor 1 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AP000296, AP000297, AP000298
      UniProtKB/TrEMBL
      C9J114
      Conserved Domains (2) summary
      pfam09294
      Location:126 → 224
      Interfer-bind; Interferon-alpha/beta receptor, fibronectin type III
      cl21522
      Location:20 → 114
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

    3. NM_001384499.1 → NP_001371428.1  interferon alpha/beta receptor 1 isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AP000296, AP000297, AP000298
      UniProtKB/TrEMBL
      A0A994J6V0
      Related
      ENSP00000515377.1, ENST00000703561.1
      Conserved Domains (2) summary
      pfam09294
      Location:126 → 224
      Interfer-bind; Interferon-alpha/beta receptor, fibronectin type III
      cl21522
      Location:20 → 114
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

    4. NM_001384500.1 → NP_001371429.1  interferon alpha/beta receptor 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP000296, AP000297, AP000298
      Consensus CDS
      CCDS93090.1
      UniProtKB/TrEMBL
      A0A8V8TQK8
      Related
      ENSP00000514786.1, ENST00000700084.1
      Conserved Domains (2) summary
      pfam09294
      Location:80 → 176
      Interfer-bind; Interferon-alpha/beta receptor, fibronectin type III
      cl21522
      Location:22 → 64
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

    5. NM_001384501.1 → NP_001371430.1  interferon alpha/beta receptor 1 isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AP000296, AP000297, AP000298
      UniProtKB/TrEMBL
      C9J114
      Conserved Domains (2) summary
      pfam09294
      Location:126 → 224
      Interfer-bind; Interferon-alpha/beta receptor, fibronectin type III
      cl21522
      Location:20 → 114
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

    6. NM_001384502.1 → NP_001371431.1  interferon alpha/beta receptor 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AP000296, AP000297, AP000298
      Related
      ENST00000700086.1
      Conserved Domains (2) summary
      pfam09294
      Location:1 → 70
      Interfer-bind; Interferon-alpha/beta receptor, fibronectin type III
      cl21522
      Location:74 → 164
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

    7. NM_001384503.1 → NP_001371432.1  interferon alpha/beta receptor 1 isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AP000296, AP000297, AP000298
      Consensus CDS
      CCDS93088.1
      UniProtKB/TrEMBL
      A0A994J6F6, C9J114
      Related
      ENSP00000515373.1, ENST00000703557.1
      Conserved Domains (2) summary
      pfam09294
      Location:126 → 224
      Interfer-bind; Interferon-alpha/beta receptor, fibronectin type III
      cl21522
      Location:20 → 114
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

    8. NM_001384504.1 → NP_001371433.1  interferon alpha/beta receptor 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AP000296, AP000297, AP000298
      Consensus CDS
      CCDS93089.1
      Related
      ENSP00000498654.1, ENST00000652450.2
      Conserved Domains (2) summary
      pfam09294
      Location:57 → 155
      Interfer-bind; Interferon-alpha/beta receptor, fibronectin type III
      cl21522
      Location:159 → 249
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      33324395..33359864
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      31696639..31732109
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P17181.3 GenPept UniProtKB/Swiss-Prot:P17181

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