Alt. symbols: IFNAR | IFRC

Approved name: interferon alpha and beta receptor subunit 1
Alt. names: interferon (alpha, beta and omega) receptor 1 | IFNalpha/beta receptor 1, type I interferon receptor 1, interferon alpha/beta receptor 1

Location: 21q22.11: 33324387 - 33359864 (+)
Gene type: protein_coding, 29 transcripts.

Scores: LoFtool: 0.696000 | pLI: 0.00062033 | LOEUF: 1.211

HGNC: 5432

NCBI: 3454, RefSeq: .0

Ensembl: ENSG00000142166.15

LRG_ | Status: none

OMIM: 107450

Expression | ProteinAtlas

The IFNAR1 protein is a subunit of the type I interferon receptor complex, which also includes another subunit known as IFNAR2. IFNAR1 binds to type I interferons, which include interferon-alpha (IFN-alpha) and interferon-beta (IFN-beta). These interferons are the cytokines that are produced in response to various stimuli, such as viral infections, and play a key role in the body's antiviral defense mechanisms. Upon binding to the interferons, the IFNAR1/IFNAR2 complex activates a signaling pathway inside the cell that leads to the production of proteins with antiviral, antiproliferative, and immune system modulating effects. This includes the activation of genes that encode antiviral proteins and proteins that regulate cell growth and the immune response. In addition to its role in the immune response, IFNAR1 is also involved in other cellular processes. For example, it has been implicated in the regulation of cell survival and apoptosis, and it may also play a role in the development and function of the nervous system.

Biallelic loss-of-function (truncating) mutations in the IFNAR1 gene leading to dysfunction or deficiency of the IFNAR1 protein have been associated with a condition mainly characterized by increased susceptibility to viral infections or by more severe rections to viral infections, namely immunodeficiency 106 (MIM#619935). Almost 10 distinct mutations have been reported thus far. Deficiency of IFNAR1 results in impaired signaling of type I interferons, which are crucial for the immune response a gainst viral infections. As a result, patients are more susceptible to severe to viral infections, including COVID-19. A digenic condition was also reported in a Saudi boy from a consanguineous family with disseminated Mycobacterium abscessus, S. viridians bacteremia, and CMV viremia, who carried both a homozygous frameshift deletion in IFNGR2 (C266fs) and a homozygous deletion in IFNAR1 (c.*557GlueExt*46) (PMID: 29106381). [Load More]