Entity Details

Primary name FLI1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ01543
EntryNameFLI1_HUMAN
FullNameFriend leukemia integration 1 transcription factor
TaxID9606
Evidenceevidence at protein level
Length452
SequenceStatuscomplete
DateCreated1993-07-01
DateModified2021-06-02

Ontological Relatives

GenesFLI1

GO terms

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GOName
GO:0000785 chromatin
GO:0000976 transcription cis-regulatory region binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007599 hemostasis
GO:0008015 blood circulation
GO:0009887 animal organ morphogenesis
GO:0016604 nuclear body
GO:0030154 cell differentiation
GO:0035855 megakaryocyte development
GO:0045893 positive regulation of transcription, DNA-templated
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR000418 Ets domainDomainDomain
IPR003118 Pointed domainDomainDomain
IPR013761 Sterile alpha motif/pointed domain superfamilyFamilyHomologous superfamily
IPR035573 Friend leukemia integration 1 transcription factor, pointed domainDomainDomain
IPR035575 Friend leukemia integration 1 transcription factorFamilyFamily
IPR036388 Winged helix-like DNA-binding domain superfamilyFamilyHomologous superfamily
IPR036390 Winged helix DNA-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617443 OMIMBleeding disorder, platelet-type 21 (BDPLT21)A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. BDPLT21 patients may have mild to moderate thrombocytopenia. The disease is caused by variants affecting the gene represented in this entry.
612219 OMIMEwing sarcoma (ES)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. 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.