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FLI1 Fli-1 proto-oncogene, ETS transcription factor [ Homo sapiens (human) ]

Gene ID: 2313, updated on 2-Nov-2024

Summary

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Official Symbol
FLI1provided by HGNC
Official Full Name
Fli-1 proto-oncogene, ETS transcription factorprovided by HGNC
Primary source
HGNC:HGNC:3749
See related
Ensembl:ENSG00000151702 MIM:193067; AllianceGenome:HGNC:3749
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EWSR2; FLI-1; SIC-1; BDPLT21
Summary
This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a fusion gene that is present in the majority of Ewing sarcoma cases. An acute lymphoblastic leukemia-associated t(4;11)(q21;q23) translocation involving this gene has also been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Annotation information
Note: FLI1 (Gene ID: 2313) and FLII (Gene ID: 2314) share the FLI1 symbol/alias in common. FLI1 is a widely used alternative name for FLII, actin remodeling protein (FLII), which can be confused with the official symbol for FLI1 (Fli-1 proto-oncogene, ETS transcription factor, GeneID 2313). [01 Jun 2018]
Expression
Broad expression in spleen (RPKM 33.9), lymph node (RPKM 17.6) and 20 other tissues See more
Orthologs
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Genomic context

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See FLI1 in Genome Data Viewer
Location:
11q24.3
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (128685351..128813267)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (128719763..128845984)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (128556430..128683162)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ETS proto-oncogene 1, transcription factor Neighboring gene uncharacterized LOC105369565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128446088-128446588 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:128452292-128453010 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:128453011-128453727 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:128457406-128457612 Neighboring gene uncharacterized LOC105369568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5728 Neighboring gene CRISPRi-FlowFISH-validated ETS1 regulatory element GRCh37_chr11:128480315-128481964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128485091-128485590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128485724-128486224 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:128491606-128492805 Neighboring gene CRISPRi-FlowFISH-validated ETS1 regulatory element GRCh37_chr11:128494058-128494944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128523817-128524317 Neighboring gene uncharacterized LOC101929538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5731 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4057 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4058 Neighboring gene CRISPRi-FlowFISH-validated ETS1 regulatory element GRCh37_chr11:128563455-128564187 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4062 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:128570339-128571538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4063 Neighboring gene NANOG hESC enhancer GRCh37_chr11:128585502-128586027 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:128587835-128588354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5733 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128596161-128596660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5738 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:128603944-128604489 Neighboring gene smooth muscle and endothelial cell enriched migration/differentiation-associated lncRNA Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128627636-128628136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128628137-128628637 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128646623-128647228 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:128654003-128654550 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:128654551-128655097 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5741 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:128689257-128689763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5743 Neighboring gene uncharacterized LOC107984409 Neighboring gene Sharpr-MPRA regulatory region 11395 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:128740730-128741492 Neighboring gene NANOG hESC enhancer GRCh37_chr11:128741942-128742537 Neighboring gene potassium inwardly rectifying channel subfamily J member 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:128771525-128772283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4065 Neighboring gene KCNJ5 antisense RNA 1 Neighboring gene potassium inwardly rectifying channel subfamily J member 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The impact of transcription factor Fli1 deficiency on the regulation of angiogenesis. Toyama T, et al. Exp Dermatol, 2017 Oct. PMID 28370536
  2. Abnormal expression of FLI1 protein is an adverse prognostic factor in acute myeloid leukemia. Kornblau SM, et al. Blood, 2011 Nov 17. PMID 21917756, Free PMC Article
  3. FLI1 is a novel ETS transcription factor involved in gene fusions in prostate cancer. Paulo P, et al. Genes Chromosomes Cancer, 2012 Mar. PMID 22081504
  4. SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome. Trkova M, et al. Am J Med Genet A, 2012 Oct. PMID 22887642
  5. Study of EWS/FLI-1 rearrangement in 18 cases of CK20+/CM2B4+ Merkel cell carcinoma using FISH and correlation to the differential diagnosis of Ewing sarcoma/peripheral neuroectodermal tumor. Fernandez-Flores A, et al. Appl Immunohistochem Mol Morphol, 2013 Oct. PMID 23165331

See all (220) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. FLI1 promotes IFN-gamma-induced kynurenine production to impair anti-tumor immunity.
    Title: FLI1 promotes IFN-γ-induced kynurenine production to impair anti-tumor immunity.
  2. Inherited thrombocytopenia associated with a variant in the FLI1 binding site in the 5' UTR of ANKRD26.
    Title: Inherited thrombocytopenia associated with a variant in the FLI1 binding site in the 5' UTR of ANKRD26.
  3. FLI-1-driven regulation of endothelial cells in human diseases.
    Title: FLI-1-driven regulation of endothelial cells in human diseases.
  4. FLI1 is associated with regulation of DNA methylation and megakaryocytic differentiation in FPDMM caused by a RUNX1 transactivation domain mutation.
    Title: FLI1 is associated with regulation of DNA methylation and megakaryocytic differentiation in FPDMM caused by a RUNX1 transactivation domain mutation.
  5. An intricate regulatory circuit between FLI1 and GATA1/GATA2/LDB1/ERG dictates erythroid vs. megakaryocytic differentiation.
    Title: An intricate regulatory circuit between FLI1 and GATA1/GATA2/LDB1/ERG dictates erythroid vs. megakaryocytic differentiation.
  6. Friend leukemia integration 1 overexpression decreases endometrial receptivity and induces embryo implantation failure by promoting PART1 transcription in the endometrial epithelial cells.
    Title: Friend leukemia integration 1 overexpression decreases endometrial receptivity and induces embryo implantation failure by promoting PART1 transcription in the endometrial epithelial cells.
  7. FLI1 induces erythroleukemia through opposing effects on UBASH3A and UBASH3B expression.
    Title: FLI1 induces erythroleukemia through opposing effects on UBASH3A and UBASH3B expression.
  8. Integrated analysis reveals FLI1 regulates the tumor immune microenvironment via its cell-type-specific expression and transcriptional regulation of distinct target genes of immune cells in breast cancer.
    Title: Integrated analysis reveals FLI1 regulates the tumor immune microenvironment via its cell-type-specific expression and transcriptional regulation of distinct target genes of immune cells in breast cancer.
  9. FLI-1 is expressed in a wide variety of hematolymphoid neoplasms: a special concern in the differential diagnosis.
    Title: FLI-1 is expressed in a wide variety of hematolymphoid neoplasms: a special concern in the differential diagnosis.
  10. Role of the transcription factor Fli-1 on the CXCL10/CXCR3 Axis.
    Title: Role of the transcription factor Fli-1 on the CXCL10/CXCR3 Axis.
Submit: New GeneRIF Correction See all GeneRIFs (165)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Bleeding disorder, platelet-type, 21
MedGen: C4479515 OMIM: 617443 GeneReviews: Not available
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EBI GWAS Catalog

Description
A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding TAS
Traceable Author Statement
more info
 PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
  
enables DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables chromatin binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription cis-regulatory region binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in animal organ morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in blood circulation IEA
Inferred from Electronic Annotation
more info
  
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in hemostasis TAS
Traceable Author Statement
more info
 PubMed 
involved_in megakaryocyte development IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
Friend leukemia integration 1 transcription factor
Names
Ewing sarcoma breakpoint region 2
Friend leukemia virus integration 1
transcription factor ERGB

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032912.1 RefSeqGene

    Range
    5001..131733
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_646

mRNA and Protein(s)

  1. NM_001167681.3 → NP_001161153.1  Friend leukemia integration 1 transcription factor isoform 2

    See identical proteins and their annotated locations for NP_001161153.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AI354789, AK300153, AP001122, DC381599
    Consensus CDS
    CCDS53725.1
    UniProtKB/TrEMBL
    A0A8V8TM04
    Related
    ENSP00000432950.1, ENST00000534087.3
    Conserved Domains (2) summary
    cd08541
    Location:81 → 171
    SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
    smart00413
    Location:247 → 330
    ETS; erythroblast transformation specific domain

  2. NM_001271010.2 → NP_001257939.1  Friend leukemia integration 1 transcription factor isoform 3

    See identical proteins and their annotated locations for NP_001257939.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains a distinct 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct and shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AI354789, AK313370, AP001122, DC381599, M93255
    Consensus CDS
    CCDS59231.1
    UniProtKB/TrEMBL
    A0A8V8TM04
    Related
    ENSP00000281428.8, ENST00000281428.12
    Conserved Domains (2) summary
    cd08541
    Location:48 → 138
    SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
    smart00413
    Location:214 → 297
    ETS; erythroblast transformation specific domain

  3. NM_001271012.2 → NP_001257941.1  Friend leukemia integration 1 transcription factor isoform 4

    See identical proteins and their annotated locations for NP_001257941.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and two alternate internal exons, and uses an alternate start codon, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AI354789, AK294279, AP001122
    Consensus CDS
    CCDS59230.1
    UniProtKB/Swiss-Prot
    Q01543
    Related
    ENSP00000339627.7, ENST00000344954.10
    Conserved Domains (1) summary
    smart00413
    Location:87 → 170
    ETS; erythroblast transformation specific domain

  4. NM_002017.5 → NP_002008.2  Friend leukemia integration 1 transcription factor isoform 1

    See identical proteins and their annotated locations for NP_002008.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AI354789, AK313370, AP001122
    Consensus CDS
    CCDS44768.1
    UniProtKB/Swiss-Prot
    B2R8H2, B4DFV4, B4DTC6, G3V183, Q01543, Q14319, Q92480, Q9UE07
    UniProtKB/TrEMBL
    A0A8V8TM04
    Related
    ENSP00000433488.2, ENST00000527786.7
    Conserved Domains (2) summary
    cd08541
    Location:114 → 204
    SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
    smart00413
    Location:280 → 363
    ETS; erythroblast transformation specific domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    128685351..128813267
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017405.2 → XP_016872894.1  Friend leukemia integration 1 transcription factor isoform X1

    UniProtKB/TrEMBL
    A0A8V8TM04
    Conserved Domains (2) summary
    cd08541
    Location:81 → 171
    SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
    smart00413
    Location:247 → 330
    ETS; erythroblast transformation specific domain

  2. XM_017017406.2 → XP_016872895.1  Friend leukemia integration 1 transcription factor isoform X1

    UniProtKB/TrEMBL
    A0A8V8TM04
    Conserved Domains (2) summary
    cd08541
    Location:81 → 171
    SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
    smart00413
    Location:247 → 330
    ETS; erythroblast transformation specific domain

  3. XM_011542701.3 → XP_011541003.1  Friend leukemia integration 1 transcription factor isoform X1

    See identical proteins and their annotated locations for XP_011541003.1

    UniProtKB/TrEMBL
    A0A8V8TM04
    Conserved Domains (2) summary
    cd08541
    Location:81 → 171
    SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
    smart00413
    Location:247 → 330
    ETS; erythroblast transformation specific domain

  4. XM_011542702.2 → XP_011541004.1  Friend leukemia integration 1 transcription factor isoform X2

    UniProtKB/TrEMBL
    A0A8V8TM04
    Conserved Domains (2) summary
    cd08541
    Location:114 → 204
    SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
    smart00413
    Location:238 → 321
    ETS; erythroblast transformation specific domain

  5. XM_047426630.1 → XP_047282586.1  Friend leukemia integration 1 transcription factor isoform X1

    Related
    ENSP00000513017.1, ENST00000696982.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    128719763..128845984
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q01543.1 GenPept UniProtKB/Swiss-Prot:Q01543

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