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

    Gene ID: 2313, updated on 5-Nov-2017
    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; Vega:OTTHUMG00000165792
    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; 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]
    Orthologs
    Location:
    11q24.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (128685263..128813267)
    105 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 uncharacterized LOC105369568 Neighboring gene uncharacterized LOC101929538 Neighboring gene smooth muscle and endothelial cell enriched migration/differentiation-associated lncRNA Neighboring gene uncharacterized LOC107984409 Neighboring gene potassium voltage-gated channel subfamily J member 1 Neighboring gene chromosome 11 open reading frame 45 Neighboring gene potassium voltage-gated channel subfamily J member 5

    • Project title: 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Bleeding disorder, platelet-type, 21
    MedGen: CN242283 OMIM: 617443 GeneReviews: Not available
    not available

    NHGRI 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.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    animal organ morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    blood circulation IEA
    Inferred from Electronic Annotation
    more info
     
    cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    hemostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    megakaryocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription from RNA polymerase II promoter IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    nuclear body IDA
    Inferred from Direct Assay
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    Friend leukemia integration 1 transcription factor
    Names
    Ewing sarcoma breakpoint region 2
    Friend leukemia virus integration 1
    transcription factor ERGB

    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)

    mRNA and Protein(s)

    1. NM_001167681.2NP_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/Swiss-Prot
      Q01543
      UniProtKB/TrEMBL
      A0A024R3N6
      Related
      ENSP00000432950.1, OTTHUMP00000230981, ENST00000534087.3, OTTHUMT00000386228
      Conserved Domains (2) summary
      cd08541
      Location:81171
      SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
      smart00413
      Location:247330
      ETS; erythroblast transformation specific domain
    2. NM_001271010.1NP_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/Swiss-Prot
      Q01543
      UniProtKB/TrEMBL
      A0A024R3K4
      Related
      ENSP00000281428.8, ENST00000281428.12
      Conserved Domains (2) summary
      cd08541
      Location:48138
      SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
      smart00413
      Location:214297
      ETS; erythroblast transformation specific domain
    3. NM_001271012.1NP_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:87170
      ETS; erythroblast transformation specific domain
    4. NM_002017.4NP_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, DC381599
      Consensus CDS
      CCDS44768.1
      UniProtKB/Swiss-Prot
      Q01543
      UniProtKB/TrEMBL
      A0A024R3M5
      Related
      ENSP00000433488.2, OTTHUMP00000230979, ENST00000527786.6, OTTHUMT00000386226
      Conserved Domains (2) summary
      cd08541
      Location:114204
      SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
      smart00413
      Location:280363
      ETS; erythroblast transformation specific domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      128685263..128813267
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      Q01543
      UniProtKB/TrEMBL
      A0A024R3N6
      Conserved Domains (2) summary
      cd08541
      Location:81171
      SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
      smart00413
      Location:247330
      ETS; erythroblast transformation specific domain
    2. XM_017017406.1XP_016872895.1  Friend leukemia integration 1 transcription factor isoform X1

      UniProtKB/Swiss-Prot
      Q01543
      UniProtKB/TrEMBL
      A0A024R3N6
      Conserved Domains (2) summary
      cd08541
      Location:81171
      SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
      smart00413
      Location:247330
      ETS; erythroblast transformation specific domain
    3. XM_011542701.2XP_011541003.1  Friend leukemia integration 1 transcription factor isoform X1

      See identical proteins and their annotated locations for XP_011541003.1

      UniProtKB/Swiss-Prot
      Q01543
      UniProtKB/TrEMBL
      A0A024R3N6
      Conserved Domains (2) summary
      cd08541
      Location:81171
      SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
      smart00413
      Location:247330
      ETS; erythroblast transformation specific domain
    4. XM_011542702.1XP_011541004.1  Friend leukemia integration 1 transcription factor isoform X2

      Conserved Domains (2) summary
      cd08541
      Location:114204
      SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
      smart00413
      Location:238321
      ETS; erythroblast transformation specific domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      128442436..128569169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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