FLI1 Gene: Friend Leukemia Integration 1 Transcription Factor
ETS family transcription factor involved in hematopoiesis, vascular development, and Ewing sarcoma pathogenesis
Gene Information Card
| Symbol | FLI1 |
|---|---|
| Full Name | Friend leukemia integration 1 transcription factor |
| Gene Type | Protein coding |
| Chromosomal Location | 11q24.3 |
| NCBI Gene ID | 2313 ncbi.nlm.nih.gov/gene/2313 |
| Ensembl ID | ENSG00000151702 |
| UniProt ID | Q01543 |
| OMIM ID | 193067 |
| HGNC ID | 3749 |
| Aliases | EWSR2, FLI-1, SIC-1, BDPLT21 |
Description
FLI1 (Friend leukemia integration 1) is a member of the ETS family of transcription factors, characterized by a conserved ETS DNA-binding domain. It regulates genes involved in hematopoiesis, vascular development, and cell proliferation. FLI1 is a proto-oncogene; chromosomal translocations involving FLI1, most commonly t(11;22)(q24;q12) resulting in the EWSR1-FLI1 fusion protein, are a hallmark of Ewing sarcoma. Germline mutations in FLI1 are associated with bleeding disorder platelet-type 21 (BDPLT21).
Disease Associations
| Disease Name | Disease Description |
|---|---|
| Ewing sarcoma | Chromosomal translocation t(11;22)(q24;q12) fuses EWSR1 to FLI1, producing an aberrant transcription factor that drives oncogenesis |
| Bleeding disorder, platelet-type 21 (BDPLT21) | Loss-of-function mutations in FLI1 impair megakaryopoiesis and platelet formation |
| Acute myeloid leukemia (AML) | FLI1 overexpression or rearrangement contributes to leukemogenesis |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Lung | 4.1 | Low |
| Heart | 2.7 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A-673 (Ewing sarcoma) | 45.2 | High expression; EWSR1-FLI1 fusion positive |
| SK-ES-1 (Ewing sarcoma) | 38.7 | High expression; EWSR1-FLI1 fusion positive |
| K562 (leukemia) | 22.1 | Moderate expression |
| HEK293 (embryonic kidney) | 1.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Mutation site | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1033C>T (p.Arg345*) | Nonsense | Rare | Loss of function; associated with BDPLT21 |
| c.497_498del (p.Glu166Valfs*12) | Frameshift deletion | Rare | Loss of function; associated with BDPLT21 |
| EWSR1-FLI1 fusion (type 1) | Chromosomal translocation | Common in Ewing sarcoma | Gain of function; oncogenic transcription factor |
Mutation functional classification
Loss of Function (LOF)
Germline nonsense or frameshift mutations (e.g., p.Arg345*, p.Glu166Valfs*12) cause haploinsufficiency, leading to thrombocytopenia and platelet dysfunction (BDPLT21).
Gain of Function (GOF)
The EWSR1-FLI1 fusion protein acts as an aberrant transcription factor, constitutively activating or repressing target genes, driving Ewing sarcoma.
Dominant Negative (DN)
EWSR1-FLI1 can interfere with wild-type FLI1 and other ETS factors, contributing to oncogenic transformation.
View complete mutation data：ClinVar: https://www.clinvar.com/gene/2313 COSMIC: https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=FLI1
Gene Ontology (GO)
| • GO:0000978 – RNA polymerase II cis-regulatory region sequence-specific DNA binding | • GO:0000981 – DNA-binding transcription factor activity |
| • RNA polymerase II-specific | • GO:0005634 – nucleus |
| • GO:0006357 – regulation of transcription by RNA polymerase II | • GO:0030097 – hemopoiesis |
| • GO:0001944 – vasculature development | • GO:0045944 – positive regulation of transcription by RNA polymerase II |
Pathways
• MAPK signaling pathway (via ETS target genes)
• Transcriptional misregulation in cancer (hsa05202)
• Signaling pathways regulating pluripotency of stem cells
• Ewing sarcoma pathway (EWSR1-FLI1 targets)
Protein Summary
FLI1 is a 452-amino acid nuclear transcription factor containing a C-terminal ETS DNA-binding domain and an N-terminal transcriptional activation domain. It binds to purine-rich DNA sequences (GGAA/T) to regulate gene expression. The protein is essential for normal megakaryopoiesis, B-cell development, and vascular integrity. In Ewing sarcoma, the EWSR1-FLI1 fusion replaces the N-terminal domain of FLI1 with the EWSR1 transactivation domain, creating a potent oncoprotein that alters the transcriptome.
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FLI1 Knockout HEK293 Cell Line | EDJ-KQ3566 | Human | 2313 | Details Get a Quote |
| FLI1 Knockout HeLa Cell Line | EDJ-KQ25433 | Human | 2313 | Details Get a Quote |
| FLI1 Knockout A-549 Cell Line | EDJ-KQ61731 | Human | 2313 | Details Get a Quote |
| FLI1 Knockout HCT 116 Cell Line | EDJ-KQ70217 | Human | 2313 | Details Get a Quote |
| FLI1 (p.A229=) Point Mutation in HAP1 Cell Line | EDC03493 | Human | 2313 | Details Get a Quote |
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