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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
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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
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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

Gene LinkOut

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