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

Gene ID: 2313, updated on 12-Apr-2014
Official Symbol
FLI1provided by HGNC
Official Full Name
Fli-1 proto-oncogene, ETS transcription factorprovided by HGNC
Primary source
HGNC:3749
See related
Ensembl:ENSG00000151702; HPRD:01901; 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
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_000011.10 (128686535..128813267)
See FLI1 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene v-ets avian erythroblastosis virus E26 oncogene homolog 1 Neighboring gene uncharacterized LOC101929517 Neighboring gene microRNA 6090 Neighboring gene uncharacterized LOC101929538 Neighboring gene smooth muscle and endothelial cell enriched migration/differentiation-associated long non-coding RNA 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
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NHGRI GWA Catalog
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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

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding RNA polymerase II transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
sequence-specific DNA binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
hemostasis TAS
Traceable Author Statement
more info
PubMed 
organ morphogenesis TAS
Traceable Author Statement
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 IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
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
Friend leukemia virus integration 1

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 proteins identical to 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
    Related
    ENSP00000432950, OTTHUMP00000230981, ENST00000534087, OTTHUMT00000386228
    Conserved Domains (2) summary
    cd08541
    Location:81171
    Blast Score: 525
    SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
    pfam00178
    Location:247330
    Blast Score: 438
    Ets; Ets-domain
  2. NM_001271010.1NP_001257939.1  Friend leukemia integration 1 transcription factor isoform 3

    See proteins identical to 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
    Related
    ENSP00000281428, ENST00000281428
    Conserved Domains (2) summary
    cd08541
    Location:48138
    Blast Score: 528
    SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
    pfam00178
    Location:214297
    Blast Score: 438
    Ets; Ets-domain
  3. NM_001271012.1NP_001257941.1  Friend leukemia integration 1 transcription factor isoform 4

    See proteins identical to 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
    Conserved Domains (1) summary
    pfam00178
    Location:87170
    Blast Score: 440
    Ets; Ets-domain
  4. NM_002017.4NP_002008.2  Friend leukemia integration 1 transcription factor isoform 1

    See proteins identical to 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
    Related
    ENSP00000433488, OTTHUMP00000230979, ENST00000527786, OTTHUMT00000386226
    Conserved Domains (2) summary
    cd08541
    Location:114204
    Blast Score: 528
    SAM_PNT-FLI-1; Sterile alpha motif (SAM)/Pointed domain of friend leukemia integration 1 transcription activator
    pfam00178
    Location:280363
    Blast Score: 440
    Ets; Ets-domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38 Primary Assembly

    Range
    128686535..128813267
    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_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

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

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