Sequence-specific transcriptional activator. Recognizes the DNA sequence 5'-C[CA]GGAAGT-3'. Defects in FLI1 are a cause of Ewing 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. A chromosomal aberration involving FLI1 is found in patients with Erwing sarcoma. Translocation t(11;22)(q24;q12) with EWSR1. Belongs to the ETS family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Transcription factor; DNA binding protein
Chromosomal Location of Human Ortholog: 11q24.1-q24.3
Cellular Component: nucleus
Molecular Function: DNA binding; sequence-specific DNA binding; transcription factor activity
Biological Process: transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; organ morphogenesis; hemostasis; cell differentiation
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.