IFNAR1 Gene: Interferon Alpha and Beta Receptor Subunit 1
A critical component of the type I interferon receptor, mediating antiviral and immunomodulatory signaling.
Gene Information Card
| Symbol | IFNAR1 |
|---|---|
| Full Name | Interferon Alpha and Beta Receptor Subunit 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 3454 ncbi.nlm.nih.gov/gene/3454 |
| Ensembl ID | ENSG00000142166 |
| UniProt ID | P17181 |
| OMIM ID | 107450 |
| HGNC ID | 5432 |
| Aliases | IFNAR, IFNBR, IFREC, IFN-R-1, IFNAR1 |
Description
The IFNAR1 gene encodes the type I interferon receptor subunit 1, a transmembrane protein that heterodimerizes with IFNAR2 to form the functional receptor for type I interferons (IFN-alpha, IFN-beta, and others). This receptor complex is essential for initiating intracellular signaling cascades, primarily the JAK-STAT pathway, leading to the expression of interferon-stimulated genes (ISGs) that mediate antiviral, antiproliferative, and immunomodulatory responses. IFNAR1 is broadly expressed across tissues and plays a critical role in innate immunity and host defense.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency 27A | Loss-of-function mutations in IFNAR1 impair type I interferon signaling, leading to increased susceptibility to viral infections, particularly severe influenza and herpes simplex encephalitis. | ClinVar, OMIM |
| Immunodeficiency 27B | Biallelic loss-of-function mutations cause a more severe phenotype with disseminated viral infections and impaired antiviral immunity. | ClinVar, OMIM |
| Systemic lupus erythematosus (SLE) | Polymorphisms in IFNAR1 have been associated with altered type I interferon signaling, contributing to autoimmune pathogenesis. | NCBI Gene, OMIM |
| Cancer (various) | Altered IFNAR1 expression or mutations may affect tumor surveillance and response to immunotherapy, though direct causal evidence is limited. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 10.2 | Medium |
| Spleen | 8.5 | Medium |
| Liver | 7.8 | Medium |
| Kidney | 6.9 | Low |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.5 | Cervical cancer cell line; high expression |
| A549 | 11.0 | Lung carcinoma; moderate-high |
| HepG2 | 9.8 | Hepatocellular carcinoma; moderate |
| K562 | 7.2 | Chronic myelogenous leukemia; low-moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1054C>T (p.Arg352Ter) | Nonsense | Rare | Loss-of-function; truncated protein |
| c.1240G>A (p.Val414Met) | Missense | Rare | Potential loss-of-function; reduced signaling |
| c.1421delA (p.Asn474fs) | Frameshift | Rare | Loss-of-function; protein truncation |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in IFNAR1 disrupt type I interferon receptor signaling, leading to impaired antiviral responses and increased susceptibility to viral infections.
Gain of Function (GOF)
No gain-of-function mutations have been reported in IFNAR1; such mutations are not currently documented in the literature or databases.
Dominant Negative (DN)
Dominant-negative effects have not been clearly established for IFNAR1 mutations; most pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004905 - type I interferon receptor activity | • GO:0005515 - protein binding |
| • GO:0005886 - plasma membrane | • GO:0007165 - signal transduction |
| • GO:0007259 - JAK-STAT cascade | • GO:0035455 - response to interferon-alpha |
Pathways
• Type I interferon signaling pathway (JAK-STAT)
• Innate immune response pathway
• Cytokine signaling in immune system
Protein Summary
IFNAR1 is a 557-amino acid type I membrane protein with an extracellular domain containing fibronectin type III domains, a transmembrane region, and a cytoplasmic tail with conserved tyrosine residues. It associates with IFNAR2 to form the high-affinity receptor complex for type I interferons. Ligand binding activates JAK1 and TYK2, leading to phosphorylation of STAT1 and STAT2, which dimerize with IRF9 to form ISGF3 and induce ISG transcription. IFNAR1 is constitutively internalized and degraded, a process regulated by ubiquitination, which modulates signaling intensity. Its expression is ubiquitous, with higher levels in immune tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFNAR1 Knockout HEK293 Cell Line | EDJ-KQ472 | Human | 3454 | Details Get a Quote |
| IFNAR1 Knockout HeLa Cell Line | EDJ-KQ18307 | Human | 3454 | Details Get a Quote |
| IFNAR1 Knockout A-549 Cell Line | EDJ-KQ18778 | Human | 3454 | Details Get a Quote |
| IFNAR1 Knockout HCT 116 Cell Line | EDJ-KQ18779 | Human | 3454 | Details Get a Quote |
| IFNAR1 Knockout THP-1 Cell Line | EDJ-KQ78090 | Human | 3454 | Details Get a Quote |
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