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FLASH GENE
Symbol FLI1 contributors: mct - updated : 04-11-2009
HGNC name Friend leukemia virus integration 1
HGNC id 3749
Corresponding disease
DEL11QD chromosome 11q distal deletion syndrome
TCDM thrombocytopenia, Paris-Trousseau type
Location 11q24.3      Physical location : 128.562.388 - 128.683.161
Synonym name
  • ERGB transcription factor
  • Fli-1 proto-oncogene
    • Synonym symbol(s) EWSR2, SIC-1
    DNA
    TYPE virus associated
    STRUCTURE 118.32 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • promoter is upregulated by Ets factors ETS1, ETS2, ELF1 either alone or in combination with GATA factors, but is inhibited by TEL
    • MAPPING cloned Y linked   status confirmed
    Physical map
    LOC387819 11 LOC387819 FLJ14494 11q24.2 hypothetical protein FLJ14494 FLJ21103 11q24.2 hypothetical protein FLJ21103 SRPR 11q24.1 signal recognition particle receptor ('docking protein') H17 11q24.2 hypothetical protein H17 TIRAP 11q24.2 toll-interleukin 1 receptor (TIR) domain containing adaptor protein DCPS 11q24.2 mRNA decapping enzyme SIAT4C 11q23-q24 sialyltransferase 4C (beta-galactoside alpha-2,3-sialyltransferase) KIRREL3 11q24 kin of IRRE like 3 (Drosophila) FLJ40224 11q24.2 hypothetical protein FLJ40224 LOC387820 11 similar to DnaJ (Hsp40) homolog, subfamily B, member 6 isoform a; heat shock protein J2 LOC283166 11q24.3 hypothetical LOC283166 ETS1 11q23.3 v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) LOC387821 11 hypothetical gene supported by BC039676 FLI1 11q24 Friend leukemia virus integration 1 KCNJ1 11q25 potassium inwardly-rectifying channel, subfamily J, member 1 KCNJ5 11q24 potassium inwardly-rectifying channel, subfamily J, member 5 MGC35558 11q24.3 hypothetical protein MGC35558 P53AIP1 11q24 p53-regulated apoptosis-inducing protein 1 RICS 11q24-q25 p53-regulated apoptosis-inducing protein 1 LOC387822 11 similar to hypothetical protein BARX2 11q25 BarH-like homeobox 2 LOC387823 11 LOC387823 LOC120224 11q24.3 hypothetical protein BC016153 NFRKB 11q24-q25 nuclear factor related to kappa B binding protein PRDM10 11q25 PR domain containing 10 LOC253665 11q24.3 similar to Transcription elongation factor B polypeptide 2 (RNA polymerase II transcription factor SIII subunit B) (SIII p18) (Elongin B) (EloB) (Elongin 18 kDa subunit) APLP2 11q24 amyloid beta (A4) precursor-like protein 2 ST14 11q24-q25 suppression of tumorigenicity 14 (colon carcinoma, matriptase, epithin) HSPC063 11q24.3 HSPC063 protein ADAMTS8 11q25 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8 ADAMTS15 11q25 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15 LOC390277 11 similar to Bcl-2 homologous antagonist/killer (Apoptosis regulator BAK) (BCL2-like 7 protein) FLJ39058 11q25 hypothetical protein FLJ39058 LOC387824 11 LOC387824 MGC43033 11q25 hypothetical protein MGC43033 SNX19 11q25 sorting nexin 19
    RNA
    TRANSCRIPTS type untranslated
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 3993 - 452 - 2008 18174230
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
     spleen   highly
     thymus   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal, growth/childhood
    Text widely, placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an ETS (erythroblast transformation specific) DNA-binding domain
  • a SAM pointed domain (sterile alpha motif)
  • a helix-loop-helix (HLH) domain
  • a fusion of a leucine rich repeat (LRR) domain with a gelsolin-like domain
    • HOMOLOGY
    Homologene
    FAMILY
  • erythroblast transformation specific (ETS) family
    • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • sequence-specific transcriptional activator
  • required with GATA1 for development of megakaryocytes
  • first nuclear marker of endothelial differentiation
  • contributes to the malignancy of breast cancer by inhibiting apoptosis through upregulated expression of the BCL2 gene
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    text histogenesis, embryogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RAS binding protein
  • regulating TGFBR2 expression
  • is a substrate of SGK3 that functions downstream of PI 3-kinase (SGK3 can associate with FLII and phosphorylate FLII at residues Ser(436) and Thr(818))
  • binding partner of NXN
  • interaction with ACTL6A (FLI1 can bind directly to both ESR1 and ACTL6A, an actin-related component of the SWI/SNF complex, suggesting that FLI1 may recruit SWI/SNF to ESR1 target genes via interaction with ACTL6A)
  • binds directly to DAAM1 and DIAPH1 (FLI1 enhances the intrinsic actin assembly activity of DAAM1 and DIAPH1 and is required for DAAM1-induced actin assembly in living cells)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) TCDM , DEL11QD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in acute myeloid leukemia
    constitutional     --low  
    by heavy methylation of the CpG islands in the promoter region was demonstrated in SSc scleroderma (systemic sclerosis) fibroblasts and skin biopsy specimens (epigenetic mechanisms may mediate the fibrotic manifestations of SSc)
    tumoral fusion      
    with EWSR1, t(11;22)(q24;q12) in Ewing sarcoma, cancer-specific molecule that binds to RHA essential for the function of EWS-FLI1 (Erkizan 2009)
    tumoral     --low  
    in in metastatic melanoma (Torlakovic 2008)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    Small molecules that disable EWS-FLI1 function with minimal toxicity, in particular sparing hematopoetic stem cells, could potentially provide a valuable adjuvant therapy for patients with Ewing sarcoma family tumors
    ANIMAL & CELL MODELS
    hemorrhage impaired hematopoiesis and lethality in mouse embryo with a targetted disruption of Fli1