Q01543 (FLI1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Friend leukemia integration 1 transcription factor

Alternative name(s):
Proto-oncogene Fli-1
Transcription factor ERGB

Gene names

Name:

FLI1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	452 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Chromosomal rearrangement
Disease	Proto-oncogene
Ligand	DNA-binding
Molecular function	Activator
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	blood circulation Inferred from electronic annotation. Source: Compara hemostasis Traceable author statement PubMed 10891501. Source: ProtInc organ morphogenesis Traceable author statement PubMed 10891501. Source: ProtInc transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA binding Traceable author statement Ref.1. Source: ProtInc RNA polymerase II distal enhancer sequence-specific DNA binding Inferred from electronic annotation. Source: Compara sequence-specific DNA binding transcription factor activity Traceable author statement PubMed 10891501. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 3 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.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 452

452

Friend leukemia integration 1 transcription factor

PRO_0000204124

Regions

Domain

112 – 198

87

PNT

DNA binding

281 – 361

81

ETS

Natural variations

Alternative sequence

1 – 76

76

MDGTI…HMNGS → MEGGLAGERA in isoform 2.

VSP_001478

Alternative sequence

1 – 33

33

Missing in isoform 3.

VSP_045276

Experimental info

Sequence conflict

69

1

E → V in AAA58479. Ref.5

Sequence conflict

77

1

Missing in AAA58479. Ref.5

Sequence conflict

130

1

P → A in AAA58479. Ref.5

Sequence conflict

130

1

P → A in AAA58480. Ref.5

Sequence conflict

133

1

W → V in AAA58479. Ref.5

Sequence conflict

133

1

W → V in AAA58480. Ref.5

Sequence conflict

294

1

S → N in BAG61938. Ref.8

Sequence conflict

323

1

E → Q in AAB23637. Ref.4

Sequence conflict

323

1

E → Q in AAA58479. Ref.5

Sequence conflict

323

1

E → Q in AAA58480. Ref.5

Sequence conflict

426

1

Missing in AAA58479. Ref.5

Sequence conflict

426

1

Missing in AAA58480. Ref.5

Secondary structure

1

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452

Helix Strand Turn

Details...

Beta strand

112 – 114

3

Beta strand

120 – 122

3

Helix

130 – 132

3

Helix

137 – 148

12

Helix

156 – 159

4

Helix

164 – 169

6

Helix

172 – 176

5

Helix

181 – 195

15

Helix

284 – 292

9

Beta strand

298 – 301

4

Beta strand

305 – 308

4

Helix

314 – 324

11

Helix

333 – 344

12

Helix

352 – 354

3

Beta strand

355 – 357

3

Beta strand

366 – 368

3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 1, 1993. Version 1. Checksum: 9C2AAEEAF683F3FA	FASTA	452	50,982
	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
	Isoform 2 [UniParc]. Checksum: BEA132F4038A230C	FASTA	386	43,649
	10 20 30 40 50 60 MEGGLAGERA RESPVDCSVS KCSKLVGGGE SNPMNYNSYM DEKNGPPPPN MTTNERRVIV 70 80 90 100 110 120 PADPTLWTQE HVRQWLEWAI KEYSLMEIDT SFFQNMDGKE LCKMNKEDFL RATTLYNTEV 130 140 150 160 170 180 LLSHLSYLRE SSLLAYNTTS HTDQSSRLSV KEDPSYDSVR RGAWGNNMNS GLNKSPPLGG 190 200 210 220 230 240 AQTISKNTEQ RPQPDPYQIL GPTSSRLANP GSGQIQLWQF LLELLSDSAN ASCITWEGTN 250 260 270 280 290 300 GEFKMTDPDE VARRWGERKS KPNMNYDKLS RALRYYYDKN IMTKVHGKRY AYKFDFHGIA 310 320 330 340 350 360 QALQPHPTES SMYKYPSDIS YMPSYHAHQQ KVNFVPPHPS SMPVTSSSFF GAASQYWTSP 370 380 TGGIYPNPNV PRHPNTHVPS HLGSYY
	Isoform 3 [UniParc]. Checksum: 44928649B0BC6840	FASTA	419	47,576
	10 20 30 40 50 60 MTASGSPDYG QPHKINPLPP QQEWINQPVR VNVKREYDHM NGSRESPVDC SVSKCSKLVG 70 80 90 100 110 120 GGESNPMNYN SYMDEKNGPP PPNMTTNERR VIVPADPTLW TQEHVRQWLE WAIKEYSLME 130 140 150 160 170 180 IDTSFFQNMD GKELCKMNKE DFLRATTLYN TEVLLSHLSY LRESSLLAYN TTSHTDQSSR 190 200 210 220 230 240 LSVKEDPSYD SVRRGAWGNN MNSGLNKSPP LGGAQTISKN TEQRPQPDPY QILGPTSSRL 250 260 270 280 290 300 ANPGSGQIQL WQFLLELLSD SANASCITWE GTNGEFKMTD PDEVARRWGE RKSKPNMNYD 310 320 330 340 350 360 KLSRALRYYY DKNIMTKVHG KRYAYKFDFH GIAQALQPHP TESSMYKYPS DISYMPSYHA 370 380 390 400 410 HQQKVNFVPP HPSSMPVTSS SFFGAASQYW TSPTGGIYPN PNVPRHPNTH VPSHLGSYY

References

	« Hide 'large scale' referencesShow '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. , 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 AND 3). Tissue: 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. , 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. , 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.
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.

IPI

IPI00329755.
IPI00939539.

PIR

I37565.
S29844.

RefSeq

NP_001161153.1. NM_001167681.2.
NP_001257939.1. NM_001271010.1.
NP_002008.2. NM_002017.4.

UniGene

Hs.504281.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1FLI	NMR	-	A	276-373	[»]
1X66	NMR	-	A	114-198	[»]
2YTU	NMR	-	A	100-220	[»]

ProteinModelPortal

Q01543.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q01543. 2 interactions.

MINT

MINT-1189961.

STRING

9606.ENSP00000339627.

PTM databases

PhosphoSite

Q01543.

Polymorphism databases

DMDM

399496.

Proteomic databases

PaxDb

Q01543.

PRIDE

Q01543.

Protocols and materials databases

DNASU

2313.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000281428; ENSP00000281428; ENSG00000151702.
ENST00000344954; ENSP00000339627; ENSG00000151702.
ENST00000429175; ENSP00000399985; ENSG00000151702.
ENST00000534087; ENSP00000432950; ENSG00000151702.

GeneID

2313.

KEGG

hsa:2313.

UCSC

uc009zci.3. human.
uc010sbu.2. human.

Organism-specific databases

CTD

2313.

GeneCards

GC11P128596.

HGNC

HGNC:3749. FLI1.

MIM

193067. gene.
612219. phenotype.

neXtProt

NX_Q01543.

Orphanet

319. Ewing sarcoma.
851. Paris-Trousseau thrombocytopenia.

PharmGKB

PA28170.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG242679.

HOGENOM

HOG000290658.

HOVERGEN

HBG001553.

InParanoid

Q01543.

KO

K09436.

OMA

KYPSDIP.

OrthoDB

EOG49078T.

Gene expression databases

ArrayExpress

Q01543.

Bgee

Q01543.

CleanEx

HS_FLI1.

Genevestigator

Q01543.

GermOnline

ENSG00000151702. Homo sapiens.

Family and domain databases

Gene3D

1.10.10.10. 1 hit.
1.10.150.50. 1 hit.

InterPro

IPR000418. Ets_dom.
IPR003118. Pointed_dom.
IPR013761. SAM/pointed.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]

Pfam

PF00178. Ets. 1 hit.
PF02198. SAM_PNT. 1 hit.
[Graphical view]

PRINTS

PR00454. ETSDOMAIN.

SMART

SM00413. ETS. 1 hit.
SM00251. SAM_PNT. 1 hit.
[Graphical view]

SUPFAM

SSF47769. SAM_homology. 1 hit.

PROSITE

PS00345. ETS_DOMAIN_1. 1 hit.
PS00346. ETS_DOMAIN_2. 1 hit.
PS50061. ETS_DOMAIN_3. 1 hit.
PS51433. PNT. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

FLI1. human.

EvolutionaryTrace

Q01543.

GenomeRNAi

2313.

NextBio

9393.

PMAP-CutDB

Q01543.

SOURCE

Search...

Entry information

Entry name

FLI1_HUMAN

Accession

Primary (citable) accession number: Q01543
Secondary accession number(s): B2R8H2 , B4DTC6, G3V183, Q14319, Q92480, Q9UE07

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 1993
Last sequence update:	July 1, 1993
Last modified:	May 1, 2013
This is version 150 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.