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Q01543 (FLI1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 160. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Friend leukemia integration 1 transcription factor
Alternative name(s):
Proto-oncogene Fli-1
Transcription factor ERGB
Gene names
Name:FLI1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length452 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Sequence-specific transcriptional activator. Recognizes the DNA sequence 5'-C[CA]GGAAGT-3'.

Subunit structure

Can form homodimers or heterodimers with ETV6/TEL1.

Subcellular location

Nucleus.

Involvement in disease

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: 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.

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.

Sequence similarities

Belongs to the ETS family.

Contains 1 ETS DNA-binding domain.

Contains 1 PNT (pointed) domain.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q01543-1)

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.
Isoform 2 (identifier: Q01543-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-76: MDGTIKEALS...KREYDHMNGS → MEGGLAGERA
Isoform 3 (identifier: Q01543-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-33: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q01543-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 452452Friend leukemia integration 1 transcription factor
PRO_0000204124

Regions

Domain112 – 19887PNT
DNA binding281 – 36181ETS

Natural variations

Alternative sequence1 – 197197MDGTI…YLRES → MDPG in isoform 4.
VSP_046943
Alternative sequence1 – 7676MDGTI…HMNGS → MEGGLAGERA in isoform 2.
VSP_001478
Alternative sequence1 – 3333Missing in isoform 3.
VSP_045276

Experimental info

Sequence conflict691E → V in AAA58479. Ref.5
Sequence conflict771Missing in AAA58479. Ref.5
Sequence conflict1301P → A in AAA58479. Ref.5
Sequence conflict1301P → A in AAA58480. Ref.5
Sequence conflict1331W → V in AAA58479. Ref.5
Sequence conflict1331W → V in AAA58480. Ref.5
Sequence conflict2941S → N in BAG61938. Ref.8
Sequence conflict3231E → Q in AAB23637. Ref.4
Sequence conflict3231E → Q in AAA58479. Ref.5
Sequence conflict3231E → Q in AAA58480. Ref.5
Sequence conflict4261Missing in AAA58479. Ref.5
Sequence conflict4261Missing in AAA58480. Ref.5

Secondary structure

................................ 452
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 1, 1993. Version 1.
Checksum: 9C2AAEEAF683F3FA

FASTA45250,982
        10         20         30         40         50         60 
MDGTIKEALS VVSDDQSLFD SAYGAAAHLP KADMTASGSP DYGQPHKINP LPPQQEWINQ 

        70         80         90        100        110        120 
PVRVNVKREY DHMNGSRESP VDCSVSKCSK LVGGGESNPM NYNSYMDEKN GPPPPNMTTN 

       130        140        150        160        170        180 
ERRVIVPADP TLWTQEHVRQ WLEWAIKEYS LMEIDTSFFQ NMDGKELCKM NKEDFLRATT 

       190        200        210        220        230        240 
LYNTEVLLSH LSYLRESSLL AYNTTSHTDQ SSRLSVKEDP SYDSVRRGAW GNNMNSGLNK 

       250        260        270        280        290        300 
SPPLGGAQTI SKNTEQRPQP DPYQILGPTS SRLANPGSGQ IQLWQFLLEL LSDSANASCI 

       310        320        330        340        350        360 
TWEGTNGEFK MTDPDEVARR WGERKSKPNM NYDKLSRALR YYYDKNIMTK VHGKRYAYKF 

       370        380        390        400        410        420 
DFHGIAQALQ PHPTESSMYK YPSDISYMPS YHAHQQKVNF VPPHPSSMPV TSSSFFGAAS 

       430        440        450 
QYWTSPTGGI YPNPNVPRHP NTHVPSHLGS YY 

« Hide

Isoform 2 [UniParc].

Checksum: BEA132F4038A230C
Show »

FASTA38643,649
Isoform 3 [UniParc].

Checksum: 44928649B0BC6840
Show »

FASTA41947,576
Isoform 4 [UniParc].

Checksum: 4070E5F30894C473
Show »

FASTA25929,084

References

« Hide 'large scale' references
[1]"Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours."
Delattre O., Zucman J., Plougastel B., Desmaze C., Melot T., Peter M., Kovar H., Joubert I., de Jong P., Rouleau G., Aurias A., Thomas G.
Nature 359:162-165(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Bone marrow.
[2]"The ERGB/Fli-1 gene: isolation and characterization of a new member of the family of human ETS transcription factors."
Watson D.K., Smyth F.E., Thompson D.M., Cheng J.Q., Testa J.R., Papas T.S., Seth A.
Cell Growth Differ. 3:705-713(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]Watson D.
Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases
Cited for: SEQUENCE REVISION.
[4]"Structure and expression of human Fli-1 gene."
Prasad D.D., Rao V.N., Reddy E.S.
Cancer Res. 52:5833-5837(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[5]"Human FLI-1 localizes to chromosome 11q24 and has an aberrant transcript in neuroepithelioma."
Hromas R., May W., Denny C., Raskind W., Moore J., Maki R.A., Beck E., Klemsz M.J.
Biochim. Biophys. Acta 1172:155-158(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
Tissue: Blood.
[6]"The human homolog of the mouse common viral integration region, FLI1, maps to 11q23-q24."
Baud V., Lipinski M., Rassart E., Poliquin L., Bergeron D.
Genomics 11:223-224(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), CHROMOSOMAL TRANSLOCATION.
[7]Ubhi B.T.S., Rainey D.R., Meredith D.M.
Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[8]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 4).
Tissue: Amygdala, Placenta and Thymus.
[9]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[10]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[11]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Lymph.
[12]"Chromosome translocation based on illegitimate recombination in human tumors."
Zucman-Rossi J., Legoix P., Victor J.M., Lopez B., Thomas G.
Proc. Natl. Acad. Sci. U.S.A. 95:11786-11791(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 58-452.
[13]"Molecular analysis of a t(11;22) translocation junction in a case of Ewing's sarcoma."
Bhagirath T., Abe S., Nojima T., Yoshida M.C.
Genes Chromosomes Cancer 13:126-132(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 278-301.
Tissue: Placenta.
[14]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[15]"Solution structure of the ets domain of Fli-1 when bound to DNA."
Liang H., Mao X., Olejniczak E.T., Nettesheim D.G., Yu L., Meadows R.P., Thompson C.B., Fesik S.W.
Nat. Struct. Biol. 1:871-875(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: STRUCTURE BY NMR OF 276-373.
[16]"Solution structure of the SAM_pnt-domain of the human Friend leukemia integration 1 transcription factor."
RIKEN structural genomics initiative (RSGI)
Submitted (NOV-2005) to the PDB data bank
Cited for: STRUCTURE BY NMR OF 114-198.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRI37565.
S29844.
RefSeqNP_001161153.1. NM_001167681.2.
NP_001257939.1. NM_001271010.1.
NP_001257941.1. NM_001271012.1.
NP_002008.2. NM_002017.4.
UniGeneHs.504281.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1FLINMR-A276-373[»]
1X66NMR-A114-198[»]
2YTUNMR-A100-220[»]
ProteinModelPortalQ01543.
SMRQ01543. Positions 114-254, 276-373.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108602. 14 interactions.
IntActQ01543. 4 interactions.
MINTMINT-1189961.
STRING9606.ENSP00000339627.

PTM databases

PhosphoSiteQ01543.

Polymorphism databases

DMDM399496.

Proteomic databases

PaxDbQ01543.
PRIDEQ01543.

Protocols and materials databases

DNASU2313.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000281428; ENSP00000281428; ENSG00000151702. [Q01543-2]
ENST00000344954; ENSP00000339627; ENSG00000151702. [Q01543-3]
ENST00000525560; ENSP00000437124; ENSG00000151702. [Q01543-4]
ENST00000527786; ENSP00000433488; ENSG00000151702. [Q01543-1]
ENST00000534087; ENSP00000432950; ENSG00000151702. [Q01543-3]
GeneID2313.
KEGGhsa:2313.
UCSCuc009zci.3. human. [Q01543-2]
uc010sbu.2. human. [Q01543-1]

Organism-specific databases

CTD2313.
GeneCardsGC11P128596.
HGNCHGNC:3749. FLI1.
MIM193067. gene.
612219. phenotype.
neXtProtNX_Q01543.
Orphanet319. Ewing sarcoma.
370334. Extraskeletal Ewing sarcoma.
851. Paris-Trousseau thrombocytopenia.
370348. Peripheral primitive neuroectodermal tumor.
PharmGKBPA28170.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG242679.
HOGENOMHOG000290658.
HOVERGENHBG001553.
InParanoidQ01543.
KOK09436.
OMAAKEDPSY.
OrthoDBEOG73V6K8.
PhylomeDBQ01543.
TreeFamTF350537.

Gene expression databases

ArrayExpressQ01543.
BgeeQ01543.
CleanExHS_FLI1.
GenevestigatorQ01543.

Family and domain databases

Gene3D1.10.10.10. 1 hit.
1.10.150.50. 1 hit.
InterProIPR000418. Ets_dom.
IPR003118. Pointed_dom.
IPR013761. SAM/pointed.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamPF00178. Ets. 1 hit.
PF02198. SAM_PNT. 1 hit.
[Graphical view]
PRINTSPR00454. ETSDOMAIN.
SMARTSM00413. ETS. 1 hit.
SM00251. SAM_PNT. 1 hit.
[Graphical view]
SUPFAMSSF47769. SSF47769. 1 hit.
PROSITEPS00345. ETS_DOMAIN_1. 1 hit.
PS00346. ETS_DOMAIN_2. 1 hit.
PS50061. ETS_DOMAIN_3. 1 hit.
PS51433. PNT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSFLI1. human.
EvolutionaryTraceQ01543.
GeneWikiFLI1.
GenomeRNAi2313.
NextBio35471593.
PMAP-CutDBQ01543.
PROQ01543.
SOURCESearch...

Entry information

Entry nameFLI1_HUMAN
AccessionPrimary (citable) accession number: Q01543
Secondary accession number(s): B2R8H2 expand/collapse secondary AC list , B4DFV4, B4DTC6, G3V183, Q14319, Q92480, Q9UE07
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: April 16, 2014
This is version 160 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM