FLI1

Function

Sequence-specific transcriptional activator (PubMed:24100448, PubMed:26316623, PubMed:28255014). Recognizes the DNA sequence 5'-C[CA]GGAAGT-3'.

Involvement in disease

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.

None

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.

Bleeding 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.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence similarities

Belongs to the ETS family.

Cellular localization

• Nucleus

Alternative names

• Friend leukemia integration 1 transcription factor
• Proto-oncogene Fli-1
• Transcription factor ERGB
• FLI1

Database links

• entrezGene:2313
• omim:193067
• swissprot:Q01543

Target type

Proteins

Primary research area

Epigenetics

Molecular weight

50982Da