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    FLI1 Friend leukemia virus integration 1 [ Homo sapiens (human) ]

    Gene ID: 2313, updated on 18-Jun-2013
    Official Symbol
    FLI1provided by HGNC
    Official Full Name
    Friend leukemia virus integration 1provided by HGNC
    Primary source
    HGNC:3749
    See related
    Ensembl:ENSG00000151702; HPRD:01901; MIM:193067
    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; SIC-1
    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]
    Location :
    11q24.1-q24.3
    Sequence :
    Chromosome: 11; NC_000011.9 (128556430..128683162)
    See FLI1 in Epigenomics, MapViewer

    Chromosome 11 - NC_000011.9Genomic Context describing neighboring genes Neighboring gene DnaJ (Hsp40) homolog, subfamily B, member 7 pseudogene Neighboring gene v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) Neighboring gene FLI1 antisense RNA 1 Neighboring gene potassium inwardly-rectifying channel, subfamily J, member 1 Neighboring gene chromosome 11 open reading frame 45 Neighboring gene potassium inwardly-rectifying channel, subfamily J, member 5

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Activity of a heptad of transcription factors is associated with stem cell programs and clinical outcome in acute myeloid leukemia. Diffner E, et al. Blood, 2013 Mar 21. PMID 23327922.
    2. Proteomic investigation of the interactome of FMNL1 in hematopoietic cells unveils a role in calcium-dependent membrane plasticity. Han Y, et al. J Proteomics, 2013 Jan 14. PMID 23182705.
    3. Junction region of EWS-FLI1 fusion protein has a dominant negative effect in Ewing's sarcoma in vitro. Jully B, et al. BMC Cancer, 2012 Nov 12. PMID 23145994.
    4. A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population. Meng W, et al. Invest Ophthalmol Vis Sci, 2012 Dec 5. PMID 23049088.
    5. Ciprofloxacin has antifibrotic effects in scleroderma fibroblasts via downregulation of Dnmt1 and upregulation of Fli1. Bujor AM, et al. Int J Mol Med, 2012 Dec. PMID 23041765.

    See all (95) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Ciprofloxacin has antifibrotic actions in Systemic sclerosis dermal and lung fibroblasts via the downregulation of Dnmt1, the upregulation of Fli1.
      Title: Ciprofloxacin has antifibrotic effects in scleroderma fibroblasts via downregulation of Dnmt1 and upregulation of Fli1.
    2. Data suggest that the junction region can be exploited further as target for drug development in future to specifically target EWS-FLI1 in Ewing's Sarcoma.
      Title: Junction region of EWS-FLI1 fusion protein has a dominant negative effect in Ewing's sarcoma in vitro.
    3. Transcriptional regulators cooperate to establish or maintain primitive stem cell-like signatures in leukemic cells.
      Title: Activity of a heptad of transcription factors is associated with stem cell programs and clinical outcome in acute myeloid leukemia.
    4. In 5q- syndrome, but not Diamond-Blackfan anemia, blood & bone marrow mononuclear cells had high Fli1 mRNA levels. This protects megakaryocytic cells from ribosomal stress & permits effective though dysplastic megakaryopoiesis.
      Title: Transcription factors Fli1 and EKLF in the differentiation of megakaryocytic and erythroid progenitor in 5q- syndrome and in Diamond-Blackfan anemia.
    5. Our findings of SNP array adn phenotype correclation do not support the traditional view that FLI1 deletion is the cause of thrombocytopenia in Jacobsen syndrome.
      Title: SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome.
    6. We found that transcriptional activation of PRKCB was directly regulated by the chimeric fusion oncogene EWSR1-FLI1 that drivesewing sarcoma growth.
      Title: Targeting the EWSR1-FLI1 oncogene-induced protein kinase PKC-β abolishes ewing sarcoma growth.
    7. FLI1 is a novel ETS transcription factor involved in gene fusions in prostate cancer and that intratumor genetic heterogeneity of ETS rearrangements can occasionally be found in index primary tumors.
      Title: FLI1 is a novel ETS transcription factor involved in gene fusions in prostate cancer.
    8. EWS-FLI chimera acquired chromatin-altering activity, leading to mistargeting, chromatin disruption, and ultimately, transcriptional dysregulation.
      Title: Tumor-specific retargeting of an oncogenic transcription factor chimera results in dysregulation of chromatin and transcription.
    9. Data show there are no differences in the distribution of immunohistochemical reactivity for CD31, CD34, D2-40, or FLI1 between AIDS-related and non-AIDS-related Kaposi sarcoma (KS) or between nodular- and patch/plaque-stage KS.
      Title: Utility of immunohistochemical staining with FLI1, D2-40, CD31, and CD34 in the diagnosis of acquired immunodeficiency syndrome-related and non-acquired immunodeficiency syndrome-related Kaposi sarcoma.
    10. Expression of FLI-1, ELF-1, and GABP activated the PF4 promoter in HepG2 cells.
      Title: Multiple ETS family proteins regulate PF4 gene expression by binding to the same ETS binding site.
    Submit: New GeneRIF Correction See all (57)

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

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    NP_002008.2 NC_000007.11 STYXL1    BIND  PubMed FLI1 (EWS-FLI1) interacts with the DUSP24 gene (MK-STYX gene). 
    NP_002008.2 NP_057698.2 TDP2    BIND  PubMed FLI1 interacts with EAPII. 
    NP_002008.2 AY675319.1 TGFBR2    BIND  PubMed FLI1 (EWS-FLI1) interacts with the TGFBR2 promoter. 
    Q01543 P11308 ERG    HPRD  PubMed  
    Q01543 P41212 ETV6    HPRD  PubMed  
    Q01543 Q01844 EWSR1    HPRD  PubMed  
    Q01543 P15976 GATA1    HPRD  PubMed  
    Q01543 Q13351 KLF1    HPRD  PubMed  
    Q01543 O15198 SMAD9    HPRD  PubMed  
    Q01543 P11831 SRF    HPRD  PubMed  
    Q01543 O95551 TDP2    HPRD  PubMed  
    BioGRID:108602 BioGRID:107140 BRCA1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108602 BioGRID:108317 ELK1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108602 BioGRID:108421 ETV6    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:108602 BioGRID:107208 FMNL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108602 BioGRID:108893 GATA1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:108602 BioGRID:115904 KLF1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108602 BioGRID:114124 PIAS1    BioGRID  PubMed Biochemical Activity 
    BioGRID:108602 BioGRID:114523 PIAS2    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex; Two-hybrid 
    BioGRID:108602 BioGRID:110263 SMAD3    BioGRID  PubMed Two-hybrid 
    BioGRID:108602 BioGRID:110268 SMAD9    BioGRID  PubMed Two-hybrid 
    BioGRID:108602 BioGRID:112600 SRF    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108602 BioGRID:113188 SUMO1    BioGRID  PubMed Two-hybrid 
    BioGRID:108602 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108602 BioGRID:113177 UBE2I    BioGRID  PubMed Two-hybrid 

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    RNA polymerase II distal enhancer sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    sequence-specific DNA binding transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    blood circulation IEA
    Inferred from Electronic Annotation
    more info
    		  
    hemostasis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    organ morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    Friend leukemia integration 1 transcription factor
    Names
    Friend leukemia integration 1 transcription factor
    proto-oncogene Fli-1
    transcription factor ERGB
    Ewing sarcoma breakpoint region 2

    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
      12382..131733
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      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/Swiss-Prot
      Q01543
      Related
      ENSP00000339627, ENST00000344954
      Conserved Domains (2) summary
      pfam00178
      Location:247 – 330
      Blast Score: 425
      Ets; Ets-domain
      cd08541
      Location:81 – 171
      Blast Score: 471
      SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator

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

      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/Swiss-Prot
      Q01543
      Related
      ENSP00000281428, ENST00000281428
      Conserved Domains (2) summary
      pfam00178
      Location:214 – 297
      Blast Score: 425
      Ets; Ets-domain
      cd08541
      Location:48 – 138
      Blast Score: 473
      SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator

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

      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/TrEMBL
      B4DFV4
      Conserved Domains (1) summary
      pfam00178
      Location:87 – 170
      Blast Score: 428
      Ets; Ets-domain

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

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AI354789, AK313370, AP001122, DC381599
      Consensus CDS
      CCDS44768.1
      UniProtKB/Swiss-Prot
      Q01543
      Conserved Domains (2) summary
      pfam00178
      Location:280 – 363
      Blast Score: 428
      Ets; Ets-domain
      cd08541
      Location:114 – 204
      Blast Score: 474
      SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000011.9 Reference GRCh37.p10 Primary Assembly

      Range
      128556430..128683162
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000143.1 Alternate HuRef

      Range
      124504750..124631960
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018922.1 Alternate CHM1_1.0

      Range
      128425586..128552403
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic AB012624.1 BAA32805.1
    genomic AB012625.1 BAA32806.1
    genomic ABBA01023010.1 (714570..722635) None
    genomic ABBA01023011.1 None
    genomic ABBA01023012.1 None
    genomic AF275879.1 AAA76854.1
      AAG33027.1
    genomic AMYH01004119.1 (558473..561776) None
    genomic AMYH01004120.1 None
    genomic AP001122.5 (45559..164296) None
    genomic CH471065.1 EAW67715.1
      EAW67716.1
      EAW67717.1
      EAW67718.1
      EAW67719.1
      EAW67720.1
    genomic D38408.1 BAA07463.1
    genomic Y17293.1 CAA76731.1
    mRNA AF147318.1 None
    mRNA AI354789.1 None
    mRNA AK294279.1 BAG57565.1
    mRNA AK300153.1 BAG61938.1
    mRNA AK313370.1 BAG36169.1
    mRNA AY029368.1 AAK50443.1
    mRNA BC001670.1 AAH01670.1
    mRNA BC010115.1 AAH10115.1
    mRNA BX647094.1 None
    mRNA DC381599.1 None
    mRNA M93255.1 AAA58479.1
      AAA58480.1
    mRNA M98833.3 AAA35812.2
    mRNA S45205.1 AAB23637.1
    mRNA S64709.1 None
    mRNA X67001.1 CAA47399.1
    other-genetic DQ892582.2 ABM83508.1
    other-genetic DQ896858.2 ABM87857.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q01543.1 GenPept UniProtKB/Swiss-Prot:Q01543

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

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        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
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        Link from Gene to dbVar
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        Link to related Nucleotide entry
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      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
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        Link to Nucleotide RefSeq RNAs
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        Link to Nucleotide RefSeqGenes
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        Related SNP records
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        Related Clinical SNP
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        Link to related taxonomy entry
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        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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