IFI27L1 Gene - Interferon Alpha Inducible Protein 27 Like 1
Comprehensive genomic and functional annotation of IFI27L1
Gene Information Card
| Symbol | IFI27L1 |
|---|---|
| Full Name | Interferon Alpha Inducible Protein 27 Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.12 |
| NCBI Gene ID | 53834 ncbi.nlm.nih.gov/gene/53834 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q9Y394 |
| OMIM ID | 618467 |
| HGNC ID | 5397 |
| Aliases | ISG12B, FAM14B, IFI27L1 |
Description
IFI27L1 (Interferon Alpha Inducible Protein 27 Like 1) is a protein-coding gene located on chromosome 14q32.12. It belongs to the IFI27 family of interferon-stimulated genes (ISGs). The encoded protein is involved in the cellular response to type I interferons, playing a role in antiviral defense and immune modulation. IFI27L1 is also known as ISG12B and FAM14B.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic lupus erythematosus | Overexpression of interferon-stimulated genes including IFI27L1 contributes to autoimmune inflammation | PMID: 25658027 |
| Viral infections (e.g., influenza, SARS-CoV-2) | IFI27L1 is upregulated in response to viral RNA, contributing to interferon-mediated antiviral state | PMID: 32697923 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Whole blood | 5.1 | Low |
| Liver | 3.2 | Low |
| Brain | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.2 | High expression after interferon stimulation |
| HEK293 (embryonic kidney) | 2.1 | Low basal expression |
| HepG2 (hepatocellular carcinoma) | 4.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon, uncertain significance |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown effect, rare population variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • response to virus (GO:0009615) | • response to type I interferon (GO:0034340) |
| • identical protein binding (GO:0042802) | • extracellular region (GO:0005576) |
Pathways
• Interferon alpha/beta signaling (Reactome: R-HSA-909733)
• Cytokine signaling in immune system (Reactome: R-HSA-1280215)
Protein Summary
The IFI27L1 protein (UniProt Q9Y394) is a small interferon-inducible protein of 122 amino acids. It localizes to the cytoplasm and is secreted into the extracellular space. It is involved in antiviral responses and may modulate apoptosis. Expression is strongly induced by type I interferons (IFN-α/β).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFI27L1 Knockout HEK293 Cell Line | EDJ-KQ8153 | Human | 122509 | Details Get a Quote |
| IFI27L1 Knockout A-549 Cell Line | EDJ-KQ34058 | Human | 122509 | Details Get a Quote |
| IFI27L1 Knockout HCT 116 Cell Line | EDJ-KQ34059 | Human | 122509 | Details Get a Quote |
| IFI27L1 Knockout HeLa Cell Line | EDJ-KQ34060 | Human | 122509 | Details Get a Quote |
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