FLI1

FLI1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1FLI, 1X66, 2YTU, 5E8G, 5E8I
Identifiers
Aliases	FLI1, EWSR2, SIC-1, Fli-1 proto-oncogene, ETS transcription factor, BDPLT21, FLI-1
External IDs	OMIM: 193067; MGI: 95554; HomoloGene: 55624; GeneCards: FLI1; OMA:FLI1 - orthologs
Gene location (Human) Chr. Chromosome 11 (human)1 Band 11q24.3 Start 128,686,535 bp1 End 128,813,267 bp1
Gene location (Mouse) Chr. Chromosome 9 (mouse)2 Band 9 A4|9 17.74 cM Start 32,333,500 bp2 End 32,454,157 bp2
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte granulocyte blood spleen bone marrow cell trabecular bone appendix lymph node right lung upper lobe of left lung Top expressed in dermis tibiofemoral joint spleen left lung lobe mesenteric lymph nodes granulocyte blood genital tubercle abdominal wall stroma of bone marrow More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding RNA polymerase II cis-regulatory region sequence-specific DNA binding chromatin binding sequence-specific DNA binding DNA-binding transcription factor activity DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus cytosol nuclear body Biological process megakaryocyte development positive regulation of transcription by RNA polymerase II transcription by RNA polymerase II hemostasis regulation of transcription, DNA-templated regulation of transcription by RNA polymerase II cell differentiation animal organ morphogenesis blood circulation transcription, DNA-templated positive regulation of transcription, DNA-templated Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2313 14247 Ensembl ENSG00000151702 ENSMUSG00000016087 UniProt Q01543 P26323 RefSeq (mRNA) NM_001167681 NM_001271010 NM_001271012 NM_002017 NM_008026 RefSeq (protein) NP_001161153 NP_001257939 NP_001257941 NP_002008 NP_001161153.1 NP_032052 Location (UCSC) Chr 11: 128.69 – 128.81 Mb Chr 9: 32.33 – 32.45 Mb PubMed search 3 4
Wikidata
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Friend leukemia integration 1 transcription factor (FLI1), also known as transcription factor ERGB, is a protein that in humans is encoded by the FLI1 gene, which is a proto-oncogene.⁵⁶⁷

Fli-1 is a member of the ETS transcription factor family that was first identified in erythroleukemias induced by Friend Murine Leukemia Virus (F-MuLV). Fli-1 is activated through retroviral insertional mutagenesis in 90% of F-MuLV-induced erythroleukemias. The constitutive activation of fli-1 in erythroblasts leads to a dramatic shift in the Epo/Epo-R signal transduction pathway, blocking erythroid differentiation, activating the Ras pathway, and resulting in massive Epo-independent proliferation of erythroblasts. These results suggest that Fli-1 overexpression in erythroblasts alters their responsiveness to Epo and triggers abnormal proliferation by switching the signaling event(s) associated with terminal differentiation to proliferation.

In addition to Friend erythroleukemia, proviral integration at the fli-1 locus also occurs in leukemias induced by the 10A1, Graffi, and Cas-Br-E viruses. Fli-1 aberrant expression is also associated with chromosomal abnormalities in humans. In pediatric Ewing's sarcoma a chromosomal translocation generates a fusion of the 5' transactivation domain of EWSR1 (also known as EWS) with the 3' Ets domain of Fli-1. The resulting fusion oncoprotein, EWS/Fli-1, acts as an aberrant transcriptional activator.⁸ with strong transforming capabilities. EWS/Fli-1 may steer clinically important genes via interaction with enhancer-like GGAA-microsatellites.⁹ The importance of Fli-1 in the development of human leukemia, such as acute myelogenous leukemia (AML), has been demonstrated in studies of translocation involving the Tel transcription factor, which interacts with Fli-1 through protein-protein interactions. A recent study has demonstrated high levels of Fli-1 expression in several benign and malignant neoplasms using immunohistochemistry.

A possible association with Paris-Trousseau syndrome has been suggested.¹⁰