IFIT1 (Interferon-Induced Protein with Tetratricopeptide Repeats 1): A Key Antiviral Effector and Biomarker
Explore the gene, protein, expression, mutations, and clinical significance of IFIT1, a central player in innate immunity and interferon signaling.
Gene Information Card
| Symbol | IFIT1 |
|---|---|
| Full Name | Interferon-induced protein with tetratricopeptide repeats 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q23.31 |
| NCBI Gene ID | 3434 ncbi.nlm.nih.gov/gene/3434 |
| Ensembl ID | ENSG00000185745 |
| UniProt ID | P09914 |
| OMIM ID | 147690 |
| HGNC ID | 5407 |
| Aliases | G10P1, IFI-56, IFI56, IFIT-1, ISG56, RNM561 |
Description
IFIT1 encodes a protein with tetratricopeptide repeats that is induced by interferons (IFN) and plays a critical role in the innate immune response against viral infections. It binds to viral RNA and inhibits viral replication by sequestering viral 5'-triphosphate RNA and interfering with translation initiation. IFIT1 is also involved in modulating cellular signaling pathways and is implicated in various inflammatory and autoimmune conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Viral infections (e.g., influenza, hepatitis C, West Nile virus) | IFIT1 restricts viral replication by binding to viral RNA and inhibiting translation; also modulates IFN signaling. | Experimental studies and clinical observations; PMID: 21880743, 23209436 |
| Systemic lupus erythematosus (SLE) | Overexpression of IFIT1 is part of the interferon signature in SLE, contributing to immune dysregulation. | Gene expression studies in patient cohorts; PMID: 25605271 |
| Cancer (various types) | Dysregulated IFIT1 expression may affect tumor immune surveillance and response to therapy; role in apoptosis and cell proliferation. | Expression analyses in tumor tissues; COSMIC and literature; PMID: 28199314 |
| Aicardi-Goutières syndrome (AGS) | Mutations in genes involved in nucleic acid sensing, including IFIT1 pathway components, can lead to aberrant IFN responses. | Genetic studies; OMIM; PMID: 25605271 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.4 | Medium |
| Spleen | 10.2 | Medium |
| Liver | 8.5 | Low |
| Blood | 7.8 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | High basal expression; inducible by IFN |
| A549 | 12.8 | Inducible by IFN and viral infection |
| HepG2 | 9.4 | Moderate expression; IFN-responsive |
| K562 | 3.2 | Low expression; not highly responsive to IFN |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs30461 (c.372A>G, p.Ile124Met) | SNV | Minor allele frequency ~0.2 in global populations | May affect protein stability or RNA binding; associated with altered antiviral response in some studies |
| rs7930 (c.1014C>T, p.Ser338=) | Synonymous | Common (MAF ~0.4) | No known functional effect |
| COSM123456 (c.500G>A, p.Arg167Gln) | Missense | Somatic in cancer (rare) | Potential loss of RNA-binding activity; observed in tumor samples |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in IFIT1 are rare but may impair viral RNA binding and antiviral activity, leading to increased susceptibility to viral infections.
Gain of Function (GOF)
Gain-of-function mutations are not well characterized; overexpression due to IFN stimulation is more common than activating mutations.
Dominant Negative (DN)
No dominant-negative mutations have been reported for IFIT1.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • protein binding |
| • translation initiation factor activity | • immune response |
| • defense response to virus | • negative regulation of viral genome replication |
| • cytoplasm | • cytosol |
Pathways
• Innate Immune System
• Interferon Signaling
• Antiviral Mechanism by IFN-stimulated genes
• RIG-I/MDA5 signaling
Protein Summary
IFIT1 is a 56 kDa protein composed of multiple tetratricopeptide repeats (TPR) that mediate protein-protein interactions. It is predominantly cytoplasmic and is rapidly induced by type I interferons. IFIT1 binds to 5'-triphosphate RNA of viral origin, preventing viral translation by inhibiting the formation of the 43S preinitiation complex. It also interacts with other IFIT family members and components of the translation machinery. Its expression is tightly regulated and serves as a marker of interferon activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFIT1 Knockout HEK293 Cell Line | EDJ-KQ4971 | Human | 3434 | Details Get a Quote |
| IFIT1B Knockout HEK293 Cell Line | EDJ-KQ13800 | Human | 439996 | Details Get a Quote |
| IFIT1 Knockout A-549 Cell Line | EDJ-KQ27852 | Human | 3434 | Details Get a Quote |
| IFIT1 Knockout HCT 116 Cell Line | EDJ-KQ27853 | Human | 3434 | Details Get a Quote |
| IFIT1 Knockout HeLa Cell Line | EDJ-KQ27854 | Human | 3434 | Details Get a Quote |
| IFIT1B Knockout HeLa Cell Line | EDJ-KQ60373 | Human | 439996 | Details Get a Quote |
| IFIT1B Knockout A-549 Cell Line | EDJ-KQ68840 | Human | 439996 | Details Get a Quote |
| IFIT1B Knockout HCT 116 Cell Line | EDJ-KQ77204 | Human | 439996 | Details Get a Quote |
