NFIL3: Nuclear Factor, Interleukin 3 Regulated
A key transcription factor in circadian rhythm, immune regulation, and hematopoiesis
Gene Information Card
| Symbol | NFIL3 |
|---|---|
| Full Name | Nuclear Factor, Interleukin 3 Regulated |
| Gene Type | Protein coding |
| Chromosomal Location | 9q22.31 |
| NCBI Gene ID | 4783 ncbi.nlm.nih.gov/gene/4783 |
| Ensembl ID | ENSG00000165030 |
| UniProt ID | Q16649 |
| OMIM ID | 605327 |
| HGNC ID | 7787 |
| Aliases | E4BP4, IL3BP1, NF-IL3A |
Description
NFIL3 (Nuclear Factor, Interleukin 3 Regulated) encodes a basic leucine zipper (bZIP) transcription factor that binds to the promoter of the interleukin-3 (IL-3) gene. It plays critical roles in circadian rhythm regulation, immune cell development (including natural killer cells and CD8+ T cells), and hematopoiesis. NFIL3 is also involved in the regulation of cell survival and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | Dysregulation of NFIL3 expression may contribute to leukemogenesis by altering hematopoietic differentiation and apoptosis. | PMID: 23470635 |
| Systemic lupus erythematosus | NFIL3 polymorphisms have been associated with SLE susceptibility, potentially through effects on immune cell function. | PMID: 22184751 |
| Circadian rhythm disorders | NFIL3 is a core component of the circadian clock; mutations may disrupt rhythmic gene expression. | PMID: 20085714 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Lung | 8.9 | Medium |
| Liver | 6.3 | Low |
| Brain | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 15.3 | Leukemia cell line; high expression |
| HEK293 | 8.7 | Embryonic kidney; moderate expression |
| Jurkat | 11.2 | T-cell leukemia; high expression |
| HeLa | 6.5 | Cervical carcinoma; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.1% | Altered DNA-binding affinity; potential loss of function |
| c.632A>G (p.Asn211Ser) | Missense | <0.1% | Unknown functional effect |
| c.1003_1004del (p.Leu335fs) | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu335fs) and missense variants affecting the bZIP domain likely impair DNA binding and transcriptional activation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in NFIL3.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in NFIL3.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • circadian rhythm |
| • regulation of transcription by RNA polymerase II | • positive regulation of transcription |
| • negative regulation of transcription | • immune system process |
| • hematopoiesis | • apoptotic process |
Pathways
• Circadian rhythm
• IL-3 signaling pathway
• Hematopoietic cell lineage
Protein Summary
NFIL3 (E4BP4) is a 462-amino acid bZIP transcription factor that forms homodimers or heterodimers with other bZIP proteins. It recognizes and binds to the consensus sequence 5'-GTGACGT-3' in target gene promoters. The protein is involved in the regulation of circadian clock genes, such as PER2, and controls the development of natural killer cells and other immune cells. NFIL3 also modulates cell survival by regulating pro-apoptotic and anti-apoptotic genes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NFIL3 Knockout HEK293 Cell Line | EDJ-KQ2720 | Human | 4783 | Details Get a Quote |
| NFIL3 Knockout A-549 Cell Line | EDJ-KQ23573 | Human | 4783 | Details Get a Quote |
| NFIL3 Knockout HCT 116 Cell Line | EDJ-KQ23574 | Human | 4783 | Details Get a Quote |
| NFIL3 Knockout HeLa Cell Line | EDJ-KQ23575 | Human | 4783 | Details Get a Quote |
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