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.
View complete mutation data:
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 Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFNA1 Knockout HEK293 Cell Line | EDJ-KQ468 | Human | 3439 | Details Get a Quote |
| IFNA14 Knockout HEK293 Cell Line | EDJ-KQ469 | Human | 3448 | Details Get a Quote |
| IFNA10 Knockout HEK293 Cell Line | EDJ-KQ4972 | Human | 3446 | Details Get a Quote |
| IFNA1 Knockout HeLa Cell Line | EDJ-KQ18007 | Human | 3439 | Details Get a Quote |
| IFNA13 Knockout HEK293 Cell Line | EDJ-KQ50380 | Human | 3447 | Details Get a Quote |
| IFNA16 Knockout HEK293 Cell Line | EDJ-KQ50381 | Human | 3449 | Details Get a Quote |
| IFNA17 Knockout HEK293 Cell Line | EDJ-KQ50382 | Human | 3451 | Details Get a Quote |
| IFNA10 Knockout HeLa Cell Line | EDJ-KQ53613 | Human | 3446 | Details Get a Quote |
| 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 |
| IFNA1 Knockout A-549 Cell Line | EDJ-KQ62076 | Human | 3439 | Details Get a Quote |
| IFNA10 Knockout A-549 Cell Line | EDJ-KQ62083 | Human | 3446 | Details Get a Quote |
| IFNA13 Knockout A-549 Cell Line | EDJ-KQ62084 | Human | 3447 | Details Get a Quote |
Displaying Records 1 To 15 Of 24 Records