FLI1
Friend leukemia integration 1 transcription factor
Also known as: EWSR2, FLI-1, FLI1_HUMAN, SIC-1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q01543
- Gene
- FLI1
- Ensembl
- ENSG00000151702
- Chromosome
- 11
- Canonical length
- 452 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Nuclear bodies
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a fusion gene that is present in the majority of Ewing sarcoma cases. An acute lymphoblastic leukemia-associated t(4;11)(q21;q23) translocation involving this gene has also been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Canonical amino-acid sequenceUniProt
452 residues, UniProt reviewed canonical sequence.
>Q01543|FLI1
1 MDGTIKEALS VVSDDQSLFD SAYGAAAHLP KADMTASGSP DYGQPHKINP LPPQQEWINQ
61 PVRVNVKREY DHMNGSRESP VDCSVSKCSK LVGGGESNPM NYNSYMDEKN GPPPPNMTTN
121 ERRVIVPADP TLWTQEHVRQ WLEWAIKEYS LMEIDTSFFQ NMDGKELCKM NKEDFLRATT
181 LYNTEVLLSH LSYLRESSLL AYNTTSHTDQ SSRLSVKEDP SYDSVRRGAW GNNMNSGLNK
241 SPPLGGAQTI SKNTEQRPQP DPYQILGPTS SRLANPGSGQ IQLWQFLLEL LSDSANASCI
301 TWEGTNGEFK MTDPDEVARR WGERKSKPNM NYDKLSRALR YYYDKNIMTK VHGKRYAYKF
361 DFHGIAQALQ PHPTESSMYK YPSDISYMPS YHAHQQKVNF VPPHPSSMPV TSSSFFGAAS
421 QYWTSPTGGI YPNPNVPRHP NTHVPSHLGS YYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FLI1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.55
- Highest tissue expression
- 66 nTPM
Expression across tissuesHPA
Tissue
- spleen: 66 nTPM
- lymph node: 35 nTPM
- tonsil: 35 nTPM
- thymus: 31 nTPM
- placenta: 31 nTPM
- bone marrow: 25 nTPM
Single-cell type
- neutrophils: 840 nCPM
- neutrophil progenitors: 779 nCPM
- megakaryocyte progenitors: 737 nCPM
- vascular endothelial cells: 529 nCPM
- microglia: 514 nCPM
- monocyte progenitors: 404 nCPM
Immune cell
- basophil: 54 nTPM
- eosinophil: 37 nTPM
- total PBMC: 29 nTPM
- non-classical monocyte: 29 nTPM
- myeloid DC: 26 nTPM
- MAIT T-cell: 25 nTPM
Brain region
- medulla oblongata: 17 nTPM
- pons: 15 nTPM
- thalamus: 14 nTPM
- spinal cord: 13 nTPM
- amygdala: 13 nTPM
- cerebral cortex: 12 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FLI1.
Disease | AllUniProt
Conditions FLI1 is implicated in, by any mechanism.
- Ewing sarcoma (ES) MIM:612219
- Bleeding disorder, platelet-type, 21 (BDPLT21) MIM:617443
Disease | GeneticClinVar
9 pathogenic / likely-pathogenic of 302 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Bleeding disorder, platelet-type, 21
- Thrombocytopenia
- Bleeding disorder platelet type macrothrombocytopenia
- Abnormal bleeding
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.28
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 2.4
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- animal organ morphogenesis
- blood circulation
- cell differentiation
- hemostasis
- megakaryocyte development
- positive regulation of DNA-templated transcription
- regulation of transcription by RNA polymerase II
Molecular functions
- chromatin binding
- DNA binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
- transcription cis-regulatory region binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Ets domain
- Pointed domain
- Sterile alpha motif/pointed domain superfamily
- Winged helix-like DNA-binding domain superfamily
- Winged helix DNA-binding domain superfamily
- ETS family
- Ets-domain
- Sterile alpha motif (SAM)/Pointed domain
- Friend leukemia integration 1 transcription factor, pointed domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of FLI1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FLI1 as an antibody target. Whether an autoantibody or antibody against FLI1 could matter depends on whether native FLI1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FLI1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label FLI1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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