IFNA1 Gene - Interferon Alpha 1: Function, Disease Associations, and Expression

Comprehensive biomedical resource for IFNA1 (Interferon Alpha 1), covering genomic data, protein function, tissue expression, and clinical significance.

Gene Information Card

Symbol IFNA1
Full Name Interferon Alpha 1
Gene Type protein coding
Chromosomal Location 9p21.3
NCBI Gene ID 3439 ncbi.nlm.nih.gov/gene/3439
Ensembl ID ENSG00000197919
UniProt ID P01562
OMIM ID 147570
HGNC ID 5417
Aliases IFL, IFN, IFN-alphaD, IFN-alpha-1, IFNA13, LeIF D, MGC138207, MGC138209, MGC138211

Description

The IFNA1 gene encodes a member of the type I interferon family, specifically interferon alpha-1 (IFN-alpha-1). This secreted cytokine is produced primarily by plasmacytoid dendritic cells and macrophages in response to viral infection or other stimuli. IFN-alpha-1 binds to the type I interferon receptor (IFNAR), a heterodimer of IFNAR1 and IFNAR2, triggering the JAK-STAT signaling cascade. This activation leads to the transcription of interferon-stimulated genes (ISGs) that mediate antiviral, antiproliferative, and immunomodulatory effects. IFNA1 is crucial for innate immunity against viral pathogens and plays a role in tumor surveillance.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Disease Mechanism Evidence
Hepatitis C Virus (HCV) Infection IFNA1 is a key component of the innate immune response against HCV. Recombinant IFN-alpha (including IFN-alpha-1) is used therapeutically to clear the virus. Genetic variations in the IFNA1 region can influence treatment response. ClinVar, NCBI Gene
Systemic Lupus Erythematosus (SLE) Dysregulated type I interferon signaling, including IFNA1, is implicated in SLE pathogenesis. Increased IFN-alpha activity is a hallmark of the disease and contributes to immune dysregulation. OMIM, NCBI Gene
Viral Infections (General) IFNA1 is a primary antiviral cytokine. Deficiency or dysfunction can lead to increased susceptibility to severe viral infections. NCBI Gene, UniProt
Certain Cancers IFNA1 has antiproliferative effects and is used as an immunotherapy for some cancers (e.g., melanoma, hairy cell leukemia). Its expression can modulate tumor growth and immune response. COSMIC, NCBI Gene

Expression Profile

Tissue Expression
Tissue nTPM level
Tissue nTPM Level
Spleen 12.4 Low
Lymph Node 8.7 Low
Bone Marrow 5.2 Low
Lung 3.1 Low
Liver 2.8 Low
Blood 1.5 Not detected
Cell Line Expression
Cell Line nTPM Notes
Cell Line nTPM Notes
BJ (fibroblast) 0.0 Not expressed under normal conditions
K-562 (leukemia) 0.0 Not expressed under normal conditions
MCF7 (breast cancer) 0.0 Not expressed under normal conditions
HepG2 (liver cancer) 0.0 Not expressed under normal conditions
THP-1 (monocyte) 0.0 Not expressed under normal conditions; inducible by viral stimulation
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
Variant Type Frequency Effect
rs3747517 SNV (Intronic) High (common) Associated with altered response to IFN-alpha therapy in HCV patients; may affect gene expression levels.
rs2069705 SNV (5' UTR) High (common) Linked to susceptibility to certain autoimmune diseases and variations in IFN-alpha production.
c.166A>G (p.Thr56Ala) Missense Rare Potential impact on protein structure and function; clinical significance is uncertain.
Mutation functional classification

Loss of Function (LOF)

Complete loss-of-function mutations in IFNA1 are rare and not well-documented in the literature. Given the redundancy of the type I interferon family, a single gene knockout may be compensated by other IFN-alpha subtypes. However, specific mutations could impair protein secretion or receptor binding, leading to reduced antiviral activity.

Gain of Function (GOF)

Gain-of-function mutations are not typically described for IFNA1. Overexpression or constitutive activation of the IFN pathway is more often associated with dysregulation of upstream signaling or epigenetic changes rather than activating mutations in the IFNA1 gene itself.

Dominant Negative (DN)

No dominant-negative mutations have been reported for IFNA1. Since it functions as a secreted ligand, a mutant protein would need to interfere with receptor binding or signaling to exert a dominant-negative effect, which has not been observed.

Gene Ontology (GO)

• cytokine activity • type I interferon receptor binding
• immune response • defense response to virus
• positive regulation of JAK-STAT cascade • positive regulation of cell population proliferation
• negative regulation of cell population proliferation • extracellular space
• signal transduction

Pathways

Cytokine-cytokine receptor interaction
JAK-STAT signaling pathway
Influenza A
Hepatitis C
Measles
Herpes simplex infection
Toll-like receptor signaling pathway
RIG-I-like receptor signaling pathway
Cytosolic DNA-sensing pathway

Protein Summary

Interferon alpha-1 (IFNA1) is a 189-amino acid precursor protein with a 23-amino acid signal peptide, resulting in a mature secreted protein of 166 amino acids. It belongs to the type I interferon family and shares structural homology with other IFN-alpha subtypes. The protein folds into a bundle of five alpha-helices. It exerts its biological effects by binding to the heterodimeric IFNAR receptor complex, leading to the activation of receptor-associated JAK1 and TYK2 kinases. This triggers the phosphorylation and nuclear translocation of STAT1 and STAT2, which, together with IRF9, form the ISGF3 transcription factor complex. ISGF3 binds to interferon-stimulated response elements (ISREs) in the promoters of hundreds of ISGs, inducing a wide range of antiviral, antiproliferative, and immunomodulatory proteins. IFNA1 is a critical effector of the innate immune system.

Related Products

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IFNA13 Knockout HeLa Cell Line EDJ-KQ53614 Human 3447 Details Get a Quote
IFNA14 Knockout HeLa Cell Line EDJ-KQ53615 Human 3448 Details Get a Quote
IFNA16 Knockout HeLa Cell Line EDJ-KQ53616 Human 3449 Details Get a Quote
IFNA17 Knockout HeLa Cell Line EDJ-KQ53617 Human 3451 Details Get a Quote
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Displaying Records 1 To 15 Of 24 Records
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