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Protein

Friend leukemia integration 1 transcription factor

Gene

FLI1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
  • regulation of transcription from RNA polymerase II promoter 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

HGNCiHGNC:3749. FLI1.

Subcellular locationi

GO - Cellular componenti

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 Publication1
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-CutDBiQ01543.

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.
IntActiQ01543. 7 interactors.
MINTiMINT-1189961.
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.
IPR035573. SAM_PNT-FLI-1.
IPR011991. WHTH_DNA-bd_dom.
PANTHERiPTHR11849:SF249. PTHR11849:SF249. 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 Publication1
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: August 30, 2017
This is version 190 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

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families