IFI30 Gene (Gamma-Interferon-Inducible Lysosomal Thiol Reductase)
Key regulator of antigen processing and MHC class II presentation
Gene Information Card
| Symbol | IFI30 |
|---|---|
| Full Name | Gamma-Interferon-Inducible Lysosomal Thiol Reductase |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 10437 ncbi.nlm.nih.gov/gene/10437 |
| Ensembl ID | ENSG00000105373 |
| UniProt ID | P13284 |
| OMIM ID | 604664 |
| HGNC ID | 5398 |
| Aliases | GILT, IP30, IFI-30 |
Description
IFI30 encodes gamma-interferon-inducible lysosomal thiol reductase (GILT), a 30 kDa enzyme localized to lysosomes and endosomes. GILT catalyzes the reduction of disulfide bonds in endocytosed proteins, facilitating their unfolding and subsequent processing for MHC class II antigen presentation. Expression is induced by interferon-gamma and is critical for efficient CD4+ T-cell responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid Arthritis | Altered GILT activity may affect autoantigen processing, contributing to synovial inflammation. | PMID: 23543789 |
| Melanoma | GILT expression in tumor cells enhances presentation of melanoma antigens, influencing immune surveillance. | PMID: 17909063 |
| Breast Cancer | Reduced GILT expression correlates with immune evasion and poor prognosis. | PMID: 25695677 |
| HIV Infection | GILT facilitates processing of HIV envelope glycoproteins, affecting viral antigen presentation. | PMID: 16368932 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 24.5 | High |
| Lymph Node | 22.1 | High |
| Lung | 15.3 | Medium |
| Liver | 8.7 | Medium |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 18.4 | IFN-gamma inducible |
| HeLa (cervical) | 12.6 | Constitutive + IFN-gamma |
| A549 (lung) | 14.2 | IFN-gamma inducible |
| Jurkat (T-cell) | 3.1 | Low basal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Reduced reductase activity in vitro |
| c.482G>A (p.Arg161Gln) | Missense | <0.01% | Altered subcellular localization |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
p.Met1Val and p.Arg113Trp reduce or abolish GILT enzymatic activity, impairing antigen processing.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Antigen processing and presentation (KEGG hsa04612)
• Endosomal/Vacuolar pathway (Reactome R-HSA-1236974)
Protein Summary
GILT is a 261-amino-acid lysosomal thiol reductase with a conserved CXXC active site motif. It is synthesized as a precursor and processed to a mature 30 kDa form. The enzyme reduces disulfide bonds in internalized antigens, a prerequisite for efficient MHC class II-restricted presentation. GILT is highly expressed in antigen-presenting cells and is upregulated by IFN-gamma. Its activity is essential for optimal CD4+ T-cell activation and immune responses against pathogens and tumors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFI30 Knockout HEK293 Cell Line | EDJ-KQ7046 | Human | 10437 | Details Get a Quote |
| IFI30 Knockout HCT 116 Cell Line | EDJ-KQ30449 | Human | 10437 | Details Get a Quote |
| IFI30 Knockout A-549 Cell Line | EDJ-KQ31821 | Human | 10437 | Details Get a Quote |
| IFI30 Knockout HeLa Cell Line | EDJ-KQ31823 | Human | 10437 | Details Get a Quote |
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