Human Gene FLI1 (ENST00000527786.7_8) from GENCODE V47lift37
  Description: Fli-1 proto-oncogene, ETS transcription factor, transcript variant 1 (from RefSeq NM_002017.5)
Gencode Transcript: ENST00000527786.7_8
Gencode Gene: ENSG00000151702.18_11
Transcript (Including UTRs)
   Position: hg19 chr11:128,563,967-128,683,162 Size: 119,196 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr11:128,564,154-128,680,883 Size: 116,730 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:128,563,967-128,683,162)mRNA (may differ from genome)Protein (452 aa)
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-  Comments and Description Text from UniProtKB
  ID: FLI1_HUMAN
DESCRIPTION: RecName: Full=Friend leukemia integration 1 transcription factor; AltName: Full=Proto-oncogene Fli-1; AltName: Full=Transcription factor ERGB;
FUNCTION: Sequence-specific transcriptional activator. Recognizes the DNA sequence 5'-C[CA]GGAAGT-3'.
SUBUNIT: Can form homodimers or heterodimers with ETV6/TEL1.
SUBCELLULAR LOCATION: Nucleus.
DISEASE: Defects in FLI1 are a cause of Ewing sarcoma (ES) [MIM:612219]. A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors. Note=A chromosomal aberration involving FLI1 is found in patients with Erwing sarcoma. Translocation t(11;22)(q24;q12) with EWSR1.
MISCELLANEOUS: Located on a fragment of chromosome 11 flanked on the centromeric side by the acute lymphoblastic leukemia- associated t(4;11)(q21;q23) translocation breakpoint and on the telomeric side by the Ewing- and neuroepithelioma-associated t(11;22) (q24;q12) breakpoint.
SIMILARITY: Belongs to the ETS family.
SIMILARITY: Contains 1 ETS DNA-binding domain.
SIMILARITY: Contains 1 PNT (pointed) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FLI1
Diseases sorted by gene-association score: bleeding disorder, platelet-type, 21* (1230), ewing sarcoma* (303), isolated delta-storage pool disease* (247), extraskeletal ewing sarcoma* (175), thrombocytopenia, paris-trousseau type* (88), jacobsen syndrome* (30), leukemia (21), sarcoma (19), hemangioendothelioma (13), ewing's family of tumors (13), kaposiform hemangioendothelioma (10), vascular cancer (10), lymphoblastic lymphoma (9), angiosarcoma (6), acute erythroid leukemia (6), mucocutaneous leishmaniasis (6), thrombocytopenia (5), ceroid lipofuscinosis, neuronal, 2 (5), ceroid lipofuscinosis, neuronal, 1 (5), desmoplastic small round cell tumor (5), diamond-blackfan anemia (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 37.35 RPKM in Spleen
Total median expression: 259.39 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -82.10187-0.439 Picture PostScript Text
3' UTR -574.602279-0.252 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000418 - Ets
IPR003118 - Pointed_dom
IPR013761 - SAM/pointed
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF00178 - Ets-domain
PF02198 - Sterile alpha motif (SAM)/Pointed domain

SCOP Domains:
46785 - "Winged helix" DNA-binding domain
47769 - SAM/Pointed domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1FLI - NMR MuPIT 1X66 - NMR MuPIT 2YTU - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q01543
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007599 hemostasis
GO:0008015 blood circulation
GO:0009887 animal organ morphogenesis
GO:0030154 cell differentiation
GO:0035855 megakaryocyte development
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005829 cytosol
GO:0016604 nuclear body


-  Descriptions from all associated GenBank mRNAs
  AK294279 - Homo sapiens cDNA FLJ52260 complete cds, highly similar to Friend leukemia integration 1 transcription factor.
AK313370 - Homo sapiens cDNA, FLJ93901, Homo sapiens Friend leukemia virus integration 1 (FLI1), mRNA.
M93255 - Human FLI-1 mRNA, complete cds for two alternate splicings.
AK300153 - Homo sapiens cDNA FLJ53915 complete cds, highly similar to Friend leukemia integration 1 transcription factor.
M98833 - Homo sapiens ERGB transcription factor mRNA, complete cds.
X67001 - H.sapiens HUMFLI-1 mRNA.
S45205 - Fli-1=Friend leukemia integration 1 [human, mRNA, 1673 nt].
BC010115 - Homo sapiens Friend leukemia virus integration 1, mRNA (cDNA clone MGC:19589 IMAGE:3635042), complete cds.
BC001670 - Homo sapiens Friend leukemia virus integration 1, mRNA (cDNA clone MGC:2252 IMAGE:2989507), complete cds.
CU674822 - Synthetic construct Homo sapiens gateway clone IMAGE:100018305 5' read FLI1 mRNA.
AB385119 - Synthetic construct DNA, clone: pF1KB5555, Homo sapiens FLI1 gene for friend leukemia integration 1 transcription factor, complete cds, without stop codon, in Flexi system.
KJ891184 - Synthetic construct Homo sapiens clone ccsbBroadEn_00578 FLI1 gene, encodes complete protein.
AY029368 - Homo sapiens friend leukemia integration 1 transcription factor (FLI1) mRNA, complete cds.
DQ896858 - Synthetic construct Homo sapiens clone IMAGE:100011318; FLH187747.01L; RZPDo839C09149D Friend leukemia virus integration 1 (FLI1) gene, encodes complete protein.
DQ892582 - Synthetic construct clone IMAGE:100005212; FLH187751.01X; RZPDo839C09150D Friend leukemia virus integration 1 (FLI1) gene, encodes complete protein.
JD200506 - Sequence 181530 from Patent EP1572962.
AF147318 - Homo sapiens full length insert cDNA clone YB21C08.
S64709 - EWS...Fli-1 {translocation} [human, IARC-EW11 Ewing's tumor-derived cells, mRNA Mutant, 3 genes, 100 nt].
JF290490 - Homo sapiens EWSR1/FLI1 fusion protein type 2 (EWSR1/FLI1 fusion) mRNA, complete cds.
BX647094 - Homo sapiens mRNA; cDNA DKFZp686M20111 (from clone DKFZp686M20111).
JF290489 - Homo sapiens EWSR1/FLI1 fusion protein type 1 (EWSR1/FLI1 fusion) mRNA, complete cds.
S66917 - EWS...FLI-1 {junction, translocation} [human, Ewing's sarcoma and malignant melanoma, mRNA PartialMutant, 3 genes, 78 nt].
S72620 - EWS...Fli1 [human, T93-113 tumor, mRNA Partial Mutant, 3 genes, 229 nt].
JD040129 - Sequence 21153 from Patent EP1572962.
JD195466 - Sequence 176490 from Patent EP1572962.
JD045292 - Sequence 26316 from Patent EP1572962.
JD355986 - Sequence 337010 from Patent EP1572962.
JD455678 - Sequence 436702 from Patent EP1572962.
JD091281 - Sequence 72305 from Patent EP1572962.
JD281293 - Sequence 262317 from Patent EP1572962.
JD312903 - Sequence 293927 from Patent EP1572962.
JD320582 - Sequence 301606 from Patent EP1572962.
JD059275 - Sequence 40299 from Patent EP1572962.
JD526897 - Sequence 507921 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2R8H2, B4DFV4, B4DTC6, ENST00000527786.1, ENST00000527786.2, ENST00000527786.3, ENST00000527786.4, ENST00000527786.5, ENST00000527786.6, FLI1_HUMAN, G3V183, NM_002017, Q01543, Q14319, Q92480, Q9UE07, uc324dug.1, uc324dug.2
UCSC ID: ENST00000527786.7_8
RefSeq Accession: NM_002017.5
Protein: Q01543 (aka FLI1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.