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Protein

Friend leukemia integration 1 transcription factor

Gene

FLI1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Sequence-specific transcriptional activator (PubMed:24100448, PubMed:26316623, PubMed:28255014). Recognizes the DNA sequence 5'-C[CA]GGAAGT-3'.3 Publications

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.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi281 – 361ETSPROSITE-ProRule annotationAdd BLAST81

GO - Molecular functioni

GO - Biological processi

  • animal organ morphogenesis Source: ProtInc
  • blood circulation Source: Ensembl
  • cell differentiation Source: GO_Central
  • hemostasis Source: ProtInc
  • megakaryocyte development Source: Ensembl
  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • regulation of transcription by RNA polymerase II Source: GO_Central

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiQ01543

Names & Taxonomyi

Protein namesi
Recommended name:
Friend leukemia integration 1 transcription factor
Alternative name(s):
Proto-oncogene Fli-1
Transcription factor ERGB
Gene namesi
Name:FLI1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000151702.16
HGNCiHGNC:3749 FLI1
MIMi193067 gene
neXtProtiNX_Q01543

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Ewing sarcoma (ES)2 Publications
The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving FLI1 is found in patients with Erwing sarcoma. Translocation t(11;22)(q24;q12) with EWSR1.2 Publications
Disease descriptionA 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.
See also OMIM:612219
Bleeding disorder, platelet-type 21 (BDPLT21)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. BDPLT21 patients may have mild to moderate thrombocytopenia.
See also OMIM:617443
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078929324R → W in BDPLT21; decreased function in positive regulation of DNA-templated transcription. 1 PublicationCorresponds to variant dbSNP:rs773148506EnsemblClinVar.1
Natural variantiVAR_078930337R → Q in BDPLT21; loss of function in positive regulation of DNA-templated transcription; decreased localization to nucleus; no effect on protein abundance. 1 Publication1
Natural variantiVAR_078931337R → W in BDPLT21; loss of function in positive regulation of DNA-templated transcription. 1 Publication1
Natural variantiVAR_078932343Y → C in BDPLT21; loss of function in positive regulation of DNA-templated transcription. 1 Publication1
Natural variantiVAR_078933345K → E in BDPLT21; loss of function in positive regulation of DNA-templated transcription; decreased localization to nucleus; no effect on protein abundance. 1 Publication1

Keywords - Diseasei

Disease mutation, Proto-oncogene

Organism-specific databases

DisGeNETi2313
MalaCardsiFLI1
MIMi612219 phenotype
617443 phenotype
OpenTargetsiENSG00000151702
Orphaneti319 Ewing sarcoma
370334 Extraskeletal Ewing sarcoma
248340 Isolated delta-storage pool disease
851 Paris-Trousseau thrombocytopenia
370348 Peripheral primitive neuroectodermal tumor
PharmGKBiPA28170

Polymorphism and mutation databases

BioMutaiFLI1
DMDMi399496

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002041241 – 452Friend leukemia integration 1 transcription factorAdd BLAST452

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei39PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ01543
MaxQBiQ01543
PaxDbiQ01543
PeptideAtlasiQ01543
PRIDEiQ01543

PTM databases

iPTMnetiQ01543
PhosphoSitePlusiQ01543

Miscellaneous databases

PMAP-CutDBQ01543

Expressioni

Gene expression databases

BgeeiENSG00000151702
CleanExiHS_FLI1
ExpressionAtlasiQ01543 baseline and differential
GenevisibleiQ01543 HS

Organism-specific databases

HPAiHPA073099

Interactioni

Subunit structurei

Can form homodimers or heterodimers with ETV6/TEL1.

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi108602, 17 interactors
CORUMiQ01543
IntActiQ01543, 7 interactors
MINTiQ01543
STRINGi9606.ENSP00000399985

Structurei

Secondary structure

1452
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi112 – 114Combined sources3
Beta strandi120 – 122Combined sources3
Helixi130 – 132Combined sources3
Helixi137 – 148Combined sources12
Helixi156 – 159Combined sources4
Helixi164 – 169Combined sources6
Helixi172 – 176Combined sources5
Helixi181 – 195Combined sources15
Helixi283 – 291Combined sources9
Helixi294 – 296Combined sources3
Turni297 – 299Combined sources3
Beta strandi300 – 302Combined sources3
Beta strandi308 – 310Combined sources3
Helixi314 – 324Combined sources11
Helixi332 – 344Combined sources13
Beta strandi347 – 350Combined sources4
Beta strandi352 – 360Combined sources9
Helixi362 – 368Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1FLINMR-A276-373[»]
1X66NMR-A114-198[»]
2YTUNMR-A100-220[»]
5E8GX-ray2.70A/B/C/D276-399[»]
5E8IX-ray3.45A/D/G/J276-399[»]
5JVTX-ray3.10A/D/G276-375[»]
ProteinModelPortaliQ01543
SMRiQ01543
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ01543

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini112 – 198PNTPROSITE-ProRule annotationAdd BLAST87

Sequence similaritiesi

Belongs to the ETS family.Curated

Phylogenomic databases

eggNOGiKOG3806 Eukaryota
ENOG410Z0ZF LUCA
GeneTreeiENSGT00760000118907
HOGENOMiHOG000290658
HOVERGENiHBG001553
InParanoidiQ01543
KOiK09436
OMAiNPDYGQP
OrthoDBiEOG091G0EWP
PhylomeDBiQ01543
TreeFamiTF350537

Family and domain databases

CDDicd08541 SAM_PNT-FLI-1, 1 hit
Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR000418 Ets_dom
IPR035575 Fli-1
IPR003118 Pointed_dom
IPR013761 SAM/pointed_sf
IPR035573 SAM_PNT-FLI-1
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PANTHERiPTHR11849:SF161 PTHR11849:SF161, 1 hit
PfamiView protein in Pfam
PF00178 Ets, 1 hit
PF02198 SAM_PNT, 1 hit
PRINTSiPR00454 ETSDOMAIN
SMARTiView protein in SMART
SM00413 ETS, 1 hit
SM00251 SAM_PNT, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
SSF47769 SSF47769, 1 hit
PROSITEiView protein in PROSITE
PS00345 ETS_DOMAIN_1, 1 hit
PS00346 ETS_DOMAIN_2, 1 hit
PS50061 ETS_DOMAIN_3, 1 hit
PS51433 PNT, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q01543-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDGTIKEALS VVSDDQSLFD SAYGAAAHLP KADMTASGSP DYGQPHKINP
60 70 80 90 100
LPPQQEWINQ PVRVNVKREY DHMNGSRESP VDCSVSKCSK LVGGGESNPM
110 120 130 140 150
NYNSYMDEKN GPPPPNMTTN ERRVIVPADP TLWTQEHVRQ WLEWAIKEYS
160 170 180 190 200
LMEIDTSFFQ NMDGKELCKM NKEDFLRATT LYNTEVLLSH LSYLRESSLL
210 220 230 240 250
AYNTTSHTDQ SSRLSVKEDP SYDSVRRGAW GNNMNSGLNK SPPLGGAQTI
260 270 280 290 300
SKNTEQRPQP DPYQILGPTS SRLANPGSGQ IQLWQFLLEL LSDSANASCI
310 320 330 340 350
TWEGTNGEFK MTDPDEVARR WGERKSKPNM NYDKLSRALR YYYDKNIMTK
360 370 380 390 400
VHGKRYAYKF DFHGIAQALQ PHPTESSMYK YPSDISYMPS YHAHQQKVNF
410 420 430 440 450
VPPHPSSMPV TSSSFFGAAS QYWTSPTGGI YPNPNVPRHP NTHVPSHLGS

YY
Length:452
Mass (Da):50,982
Last modified:July 1, 1993 - v1
Checksum:i9C2AAEEAF683F3FA
GO
Isoform 2 (identifier: Q01543-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-76: MDGTIKEALS...KREYDHMNGS → MEGGLAGERA

Show »
Length:386
Mass (Da):43,649
Checksum:iBEA132F4038A230C
GO
Isoform 3 (identifier: Q01543-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-33: Missing.

Note: No experimental confirmation available.
Show »
Length:419
Mass (Da):47,576
Checksum:i44928649B0BC6840
GO
Isoform 4 (identifier: Q01543-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-197: MDGTIKEALS...LSHLSYLRES → MDPG

Show »
Length:259
Mass (Da):29,084
Checksum:i4070E5F30894C473
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti69E → V in AAA58479 (PubMed:8439553).Curated1
Sequence conflicti77Missing in AAA58479 (PubMed:8439553).Curated1
Sequence conflicti130P → A in AAA58479 (PubMed:8439553).Curated1
Sequence conflicti130P → A in AAA58480 (PubMed:8439553).Curated1
Sequence conflicti133W → V in AAA58479 (PubMed:8439553).Curated1
Sequence conflicti133W → V in AAA58480 (PubMed:8439553).Curated1
Sequence conflicti294S → N in BAG61938 (PubMed:14702039).Curated1
Sequence conflicti323E → Q in AAB23637 (PubMed:1394211).Curated1
Sequence conflicti323E → Q in AAA58479 (PubMed:8439553).Curated1
Sequence conflicti323E → Q in AAA58480 (PubMed:8439553).Curated1
Sequence conflicti426Missing in AAA58479 (PubMed:8439553).Curated1
Sequence conflicti426Missing in AAA58480 (PubMed:8439553).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078929324R → W in BDPLT21; decreased function in positive regulation of DNA-templated transcription. 1 PublicationCorresponds to variant dbSNP:rs773148506EnsemblClinVar.1
Natural variantiVAR_078930337R → Q in BDPLT21; loss of function in positive regulation of DNA-templated transcription; decreased localization to nucleus; no effect on protein abundance. 1 Publication1
Natural variantiVAR_078931337R → W in BDPLT21; loss of function in positive regulation of DNA-templated transcription. 1 Publication1
Natural variantiVAR_078932343Y → C in BDPLT21; loss of function in positive regulation of DNA-templated transcription. 1 Publication1
Natural variantiVAR_078933345K → E in BDPLT21; loss of function in positive regulation of DNA-templated transcription; decreased localization to nucleus; no effect on protein abundance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0469431 – 197MDGTI…YLRES → MDPG in isoform 4. 1 PublicationAdd BLAST197
Alternative sequenceiVSP_0014781 – 76MDGTI…HMNGS → MEGGLAGERA in isoform 2. 2 PublicationsAdd BLAST76
Alternative sequenceiVSP_0452761 – 33Missing in isoform 3. 1 PublicationAdd BLAST33

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X67001 mRNA Translation: CAA47399.1
M98833 mRNA Translation: AAA35812.2
S45205 mRNA Translation: AAB23637.1
M93255 mRNA Translation: AAA58479.1
M93255 mRNA Translation: AAA58480.1
AY029368 mRNA Translation: AAK50443.1
AK294279 mRNA Translation: BAG57565.1
AK300153 mRNA Translation: BAG61938.1
AK313370 mRNA Translation: BAG36169.1
AP001122 Genomic DNA No translation available.
CH471065 Genomic DNA Translation: EAW67715.1
CH471065 Genomic DNA Translation: EAW67718.1
BC001670 mRNA Translation: AAH01670.1
BC010115 mRNA Translation: AAH10115.1
Y17293 Genomic DNA Translation: CAA76731.1
D38408 Genomic DNA Translation: BAA07463.1 Different termination.
CCDSiCCDS44768.1 [Q01543-1]
CCDS53725.1 [Q01543-3]
CCDS59230.1 [Q01543-4]
CCDS59231.1 [Q01543-2]
PIRiI37565
S29844
RefSeqiNP_001161153.1, NM_001167681.2 [Q01543-3]
NP_001257939.1, NM_001271010.1 [Q01543-2]
NP_001257941.1, NM_001271012.1 [Q01543-4]
NP_002008.2, NM_002017.4 [Q01543-1]
XP_011541003.1, XM_011542701.2 [Q01543-3]
XP_016872894.1, XM_017017405.1 [Q01543-3]
XP_016872895.1, XM_017017406.1 [Q01543-3]
UniGeneiHs.504281

Genome annotation databases

EnsembliENST00000281428; ENSP00000281428; ENSG00000151702 [Q01543-2]
ENST00000344954; ENSP00000339627; ENSG00000151702 [Q01543-4]
ENST00000527786; ENSP00000433488; ENSG00000151702 [Q01543-1]
ENST00000534087; ENSP00000432950; ENSG00000151702 [Q01543-3]
GeneIDi2313
KEGGihsa:2313
UCSCiuc009zci.4 human [Q01543-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Similar proteinsi

Entry informationi

Entry nameiFLI1_HUMAN
AccessioniPrimary (citable) accession number: Q01543
Secondary accession number(s): B2R8H2
, B4DFV4, B4DTC6, G3V183, Q14319, Q92480, Q9UE07
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: May 23, 2018
This is version 197 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

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