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]
Function: Sequence-specific transcriptional activator. Recognizes the DNA sequence 5-C[CA]GGAAGT-3
Subunit: Can form homodimers or heterodimers with ETV6/TEL1.
Subcellular Location: Nucleus.
DISEASE: Defects in FLI1 are a cause of Ewing sarcoma (ES) [MIM:612219]. 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. Note=A chromosomal aberration involving FLI1 is found in patients with Erwing sarcoma. Translocation t(11;22)(q24;q12) with EWSR1.
Similarity: Belongs to the ETS family.
Contains 1 ETS DNA-binding domain.
Contains 1 PNT (pointed) domain.
SWISS: Q01543
Gene ID: 2313
Database links:
Entrez Gene: 2313 Human
Entrez Gene: 14247 Mouse
Entrez Gene: 315532 Rat
Omim: 193067 Human
SwissProt: Q01543 Human
SwissProt: P26323 Mouse
Unigene: 504281 Human
Unigene: 258908 Mouse
Unigene: 203677 Rat
Picture
Sample:
U937(Human) Cell Lysate at 40 ug
Primary: Anti-FLI1 (SL20433R) at 1/300 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 50 kD
Observed band size: 50 kD
