Reviewed,
UniProtKB/Swiss-Prot Q01543 (FLI1_HUMAN)
Last modified
June 16, 2009.
Version 107.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Friend leukemia integration 1 transcription factor Alternative name(s): Fli-1 proto-oncogene ERGB transcription factor | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 452 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| 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 | |
| Involvement in disease | A chromosomal aberration involving FLI1 is a cause of Ewing sarcoma [MIM:133450]. Translocation t(11;22)(q24;q12) with EWS. |
| 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 |
| PTM | Phosphoprotein |
| Technical term | 3D-structure |
| Gene Ontology (GO) | |
| Biological process | hemostasis Traceable author statement. Source: ProtInc organ morphogenesisTraceable author statement. Source: ProtInc regulation of transcription, DNA-dependentInferred from electronic annotation. Source: UniProtKB-KW transcriptionInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | protein binding Inferred from physical interaction. Source: IntAct sequence-specific DNA bindingInferred from electronic annotation. Source: InterPro transcription factor activityTraceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| Grip1 | Q925T6 | 1 | EBI-2271018,EBI-537752 | From a different organism. |
Alternative products
| This entry describes 2 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 | ||||||
| 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 | |||||||||||||||||||||||||||||||||||
Amino acid modifications | ||||||||||||||||||||||||||||||||||||||
| Modified residue | 76 | 1 | Phosphoserine Ref.11 | |||||||||||||||||||||||||||||||||||
| Modified residue | 86 | 1 | Phosphoserine Ref.11 | |||||||||||||||||||||||||||||||||||
| Modified residue | 89 | 1 | Phosphoserine Ref.11 | |||||||||||||||||||||||||||||||||||
Natural variations | ||||||||||||||||||||||||||||||||||||||
| Alternative sequence | 1 – 76 | 76 | MDGTI…HMNGS → MEGGLAGERA in isoform 2. | VSP_001478 | ||||||||||||||||||||||||||||||||||
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 | 323 | 1 | E → Q Ref.4 | |||||||||||||||||||||||||||||||||||
| Sequence conflict | 323 | 1 | E → Q Ref.5 | |||||||||||||||||||||||||||||||||||
| Sequence conflict | 426 | 1 | Missing in AAA58479. Ref.5 | |||||||||||||||||||||||||||||||||||
| Sequence conflict | 426 | 1 | Missing in AAA58480. Ref.5 | |||||||||||||||||||||||||||||||||||
Secondary structure | ||||||||||||||||||||||||||||||||||||||
Helix Strand Turn | ||||||||||||||||||||||||||||||||||||||
| 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
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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: 1522903] [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: 1445800] [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: 1394211] [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: 8439553] [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: 1765382] [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] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Lymph. |
| [9] | "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: 9751743] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 58-452. |
| [10] | "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: 7542907] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 278-301. Tissue: Placenta. |
| [11] | "Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry." Molina H., Horn D.M., Tang N., Mathivanan S., Pandey A. Proc. Natl. Acad. Sci. U.S.A. 104:2199-2204(2007) [PubMed: 17287340] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-76; SER-86 AND SER-89, MASS SPECTROMETRY. |
| [12] | "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: 7773776] [Abstract] Cited for: STRUCTURE BY NMR OF 276-373. |
| [13] | "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 | |||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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. 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 | IPI00217470. IPI00329755. | ||||||||||||||||||||||||
| PIR | I37565. S29844. | ||||||||||||||||||||||||
| RefSeq | NP_002008.2. | ||||||||||||||||||||||||
| UniGene | Hs.504281 | ||||||||||||||||||||||||
3D structure databases | |||||||||||||||||||||||||
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| ModBase | Search... | ||||||||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||||||||
| IntAct | Q01543. 1 interaction. | ||||||||||||||||||||||||
PTM databases | |||||||||||||||||||||||||
| PhosphoSite | Q01543. | ||||||||||||||||||||||||
Genome annotation databases | |||||||||||||||||||||||||
| Ensembl | ENSG00000151702. Homo sapiens. [Contig view] | ||||||||||||||||||||||||
| GeneID | 2313. | ||||||||||||||||||||||||
| KEGG | hsa:2313. | ||||||||||||||||||||||||
Organism-specific databases | |||||||||||||||||||||||||
| GeneCards | GC11P128069. | ||||||||||||||||||||||||
| H-InvDB | HIX0010262. | ||||||||||||||||||||||||
| HGNC | HGNC:3749. FLI1. | ||||||||||||||||||||||||
| MIM | 133450. gene+phenotype. 193067. gene. | ||||||||||||||||||||||||
| Orphanet | 319. Ewing sarcoma. 851. Paris-Trousseau thrombocytopenia. | ||||||||||||||||||||||||
| PharmGKB | PA28170. | ||||||||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||||||||
| HOGENOM | Q01543. | ||||||||||||||||||||||||
| HOVERGEN | Q01543. | ||||||||||||||||||||||||
Gene expression databases | |||||||||||||||||||||||||
| ArrayExpress | Q01543. | ||||||||||||||||||||||||
| Bgee | Q01543. | ||||||||||||||||||||||||
| CleanEx | HS_FLI1. | ||||||||||||||||||||||||
| GermOnline | ENSG00000151702. Homo sapiens. | ||||||||||||||||||||||||
Family and domain databases | |||||||||||||||||||||||||
| InterPro | IPR000418. Ets. IPR003118. SAM_PNT. IPR013761. SAM_type. IPR011991. Wing_hlx_DNA_bd. [Graphical view] | ||||||||||||||||||||||||
| Gene3D | G3DSA:1.10.150.50. SAM_type. 1 hit. G3DSA:1.10.10.10. Wing_hlx_DNA_bd. 1 hit. | ||||||||||||||||||||||||
| 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] | ||||||||||||||||||||||||
| 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 Resources | |||||||||||||||||||||||||
| NextBio | 9393. | ||||||||||||||||||||||||
| PMAP-CutDB | Q01543. | ||||||||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||||||||
Entry information
| Entry name | FLI1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q01543 Secondary accession number(s): Q14319, Q92480, Q9UE07 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 11 Human chromosome 11: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


