• Gene id: 2313

Gene Summary

• Gene Symbol: FLI1   Gene   UCSC   Ensembl
• Aliases: BDPLT21, EWSR2, SIC-1
• Gene name: Fli-1 proto-oncogene, ETS transcription factor
• Alternate names: Friend leukemia integration 1 transcription factor, Ewing sarcoma breakpoint region 2, Friend leukemia virus integration 1, transcription factor ERGB,
• Gene location: 11q24.3 (128685262: 128813266)     Exons: 15     NC_000011.10
• Gene summary(Entrez): 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 sar
• OMIM: 616513

Protein Summary

• Protein general information: Q01543  
  • Name: Friend leukemia integration 1 transcription factor (Proto oncogene Fli 1) (Transcription factor ERGB)
  • Length: 452  
  • Mass: 50982
• Sequence:

  MDGTIKEALSVVSDDQSLFDSAYGAAAHLPKADMTASGSPDYGQPHKINPLPPQQEWINQPVRVNVKREYDHMNG
  SRESPVDCSVSKCSKLVGGGESNPMNYNSYMDEKNGPPPPNMTTNERRVIVPADPTLWTQEHVRQWLEWAIKEYS
  LMEIDTSFFQNMDGKELCKMNKEDFLRATTLYNTEVLLSHLSYLRESSLLAYNTTSHTDQSSRLSVKEDPSYDSV
  RRGAWGNNMNSGLNKSPPLGGAQTISKNTEQRPQPDPYQILGPTSSRLANPGSGQIQLWQFLLELLSDSANASCI
  TWEGTNGEFKMTDPDEVARRWGERKSKPNMNYDKLSRALRYYYDKNIMTKVHGKRYAYKFDFHGIAQALQPHPTE
  SSMYKYPSDISYMPSYHAHQQKVNFVPPHPSSMPVTSSSFFGAASQYWTSPTGGIYPNPNVPRHPNTHVPSHLGS
  YY

• Structural information:
  • Protein Domains: (112..19-)
    (/note="PNT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00762"-)
  • Interpro: IPR000418  IPR035575  IPR003118  IPR013761  IPR035573   IPR036388  IPR036390  
  • Prosite: PS00345 PS00346 PS50061 PS51433
  • CDD: cd08541
  • PDB: 1FLI 1X66 2YTU 5E8G 5E8I 5JVT
  • PDBsum: 1FLI 1X66 2YTU 5E8G 5E8I 5JVT
  • STRING: ENSP00000433488
• Other Databases: GeneCards:  FLI1  Malacards:  FLI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0007599	hemostasis	TAS	biological process
GO:0009887	animal organ morphogenesis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0008015	blood circulation	IEA	biological process
GO:0035855	megakaryocyte development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer

Diseases

Associated diseases	References
Bleeding disorder platelet-type	KEGG:H01235
Ewing sarcoma	KEGG:H00035
Bleeding disorder platelet-type	KEGG:H01235
Ewing sarcoma	KEGG:H00035
Thrombocytopenia	PMID:15232614
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq