IRF1 Gene: Interferon Regulatory Factor 1
A master regulator of immune response, tumor suppression, and apoptosis
Gene Information Card
| Symbol | IRF1 |
|---|---|
| Full Name | Interferon Regulatory Factor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 3659 ncbi.nlm.nih.gov/gene/3659 |
| Ensembl ID | ENSG00000125347 |
| UniProt ID | P10914 |
| OMIM ID | 147575 |
| HGNC ID | 6116 |
| Aliases | IRF-1, MAR, IRF1_HUMAN |
Description
IRF1 encodes interferon regulatory factor 1, a transcription factor that binds to interferon-stimulated response elements (ISRE) and regulates expression of genes involved in immune response, cell growth, apoptosis, and tumor suppression. It is a key mediator of type I and type II interferon signaling and plays a critical role in host defense against viral and bacterial infections. IRF1 also functions as a tumor suppressor by inducing cell cycle arrest and apoptosis in response to DNA damage and oncogenic stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Loss of IRF1 expression leads to reduced apoptosis and increased proliferation; IRF1 acts as a tumor suppressor in liver cancer. | PMID: 23555512; COSMIC |
| Gastric cancer | IRF1 promoter hypermethylation silences gene expression, contributing to tumor progression. | PMID: 20034512; ClinVar |
| Chronic myeloid leukemia (CML) | IRF1 is frequently deleted or inactivated in CML, impairing interferon-mediated growth suppression. | PMID: 8425221; COSMIC |
| Breast cancer | Reduced IRF1 expression correlates with poor prognosis; IRF1 inhibits estrogen receptor signaling. | PMID: 21324916; ClinVar |
| Viral infections (e.g., hepatitis C) | IRF1 induces antiviral genes; viral proteins may inhibit IRF1 activity to evade immune response. | PMID: 15688252; NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.3 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.5 | Low |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Brain | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | High expression; IRF1 is constitutively active |
| HeLa (cervical cancer) | 9.8 | Moderate; induced by interferon |
| A549 (lung cancer) | 7.3 | Low basal; inducible by cytokines |
| MCF7 (breast cancer) | 5.1 | Low; associated with poor prognosis |
| HepG2 (liver cancer) | 3.4 | Low; loss of tumor suppressor function |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.652C>T (p.Arg218Trp) | Missense | 0.01% (COSMIC) | Loss of DNA binding and transcriptional activity |
| c.1045C>T (p.Arg349Ter) | Nonsense | 0.005% (ClinVar) | Truncated protein, loss of function |
| c.−77C>T (promoter) | Regulatory | 0.02% (ClinVar) | Reduced promoter activity, lower expression |
| c.1114A>G (p.Thr372Ala) | Missense | 0.008% (COSMIC) | Altered protein stability, reduced function |
Mutation functional classification
Loss of Function (LOF)
Most IRF1 mutations are loss-of-function, leading to reduced transcriptional activity, impaired apoptosis, and increased cancer risk.
Gain of Function (GOF)
No clear gain-of-function mutations reported; IRF1 is primarily a tumor suppressor.
Dominant Negative (DN)
Some missense mutations in the DNA-binding domain may act as dominant-negative by forming inactive heterodimers with wild-type IRF1.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • protein dimerization activity | • regulation of transcription by RNA polymerase II |
| • immune response | • apoptotic process |
| • cell cycle arrest | • response to interferon-gamma |
| • positive regulation of cytokine production | • tumor necrosis factor-mediated signaling pathway |
Pathways
• Interferon gamma signaling
• Interferon alpha/beta signaling
• Apoptosis modulation and signaling
• Toll-like receptor signaling pathway
• Cytokine-cytokine receptor interaction
• p53 signaling pathway (cross-talk)
Protein Summary
IRF1 is a 325-amino acid protein with a conserved N-terminal DNA-binding domain containing a helix-turn-helix motif that recognizes ISRE sequences. It forms homodimers and heterodimers with other IRF family members. IRF1 is primarily localized in the nucleus and is rapidly induced by interferons, cytokines, and DNA damage. It regulates the expression of target genes such as CASP1, CASP7, and IFNB1, promoting apoptosis and immune activation. Post-translational modifications include phosphorylation and ubiquitination, which modulate its stability and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IRF1 Knockout HEK293 Cell Line | EDJ-KQ1490 | Human | 3659 | Details Get a Quote |
| IRF1 Knockout A-549 Cell Line | EDJ-KQ21084 | Human | 3659 | Details Get a Quote |
| IRF1 Knockout HCT 116 Cell Line | EDJ-KQ21085 | Human | 3659 | Details Get a Quote |
| IRF1 Knockout HeLa Cell Line | EDJ-KQ21086 | Human | 3659 | Details Get a Quote |
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