FLI1
entrez
2313
canonical
uniprot
Q01543
canonical
ensembl
ENSG00000151702
resolver
ensp
ENSP00000432950
resolver
ensp
ENSP00000433488
resolver
ensp
ENSP00000513017
resolver
ensp
ENSP00000567214
resolver
genesymbol
FLI1
resolver
hgnc
HGNC:3749
resolver
uniprot
B2R8H2
resolver
uniprot
B4DFV4
resolver
uniprot
B4DTC6
resolver
uniprot
G3V183
resolver
uniprot
Q14319
resolver
uniprot
Q92480
resolver
uniprot
Q9UE07
resolver
uniprot_entry
FLI1_HUMAN
resolver
uniprot_sec
B2R8H2
resolver
uniprot_sec
B4DFV4
resolver
uniprot_sec
B4DTC6
resolver
uniprot_sec
G3V183
resolver
uniprot_sec
Q14319
resolver
uniprot_sec
Q92480
resolver
uniprot_sec
Q9UE07
resolver
amino_acid_sequence
MDGTIKEALSVVSDDQSLFDSAYGAAAHLPKADMTASGSPDYGQPHKINPLPPQQEWINQPVRVNVKREYDHMNGSRESPVDCSVSKCSKLVGGGESNPMNYNSYMDEKNGPPPPNMTTNERRVIVPADPTLWTQEHVRQWLEWAIKEYSLMEIDTSFFQNMDGKELCKMNKEDFLRATTLYNTEVLLSHLSYLRESSLLAYNTTSHTDQSSRLSVKEDPSYDSVRRGAWGNNMNSGLNKSPPLGGAQTISKNTEQRPQPDPYQILGPTSSRLANPGSGQIQLWQFLLELLSDSANASCITWEGTNGEFKMTDPDEVARRWGERKSKPNMNYDKLSRALRYYYDKNIMTKVHGKRYAYKFDFHGIAQALQPHPTESSMYKYPSDISYMPSYHAHQQKVNFVPPHPSSMPVTSSSFFGAASQYWTSPTGGIYPNPNVPRHPNTHVPSHLGSYY
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:1522903, ECO:0000269|PubMed:1765382}. Note=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. {ECO:0000269|PubMed:1522903, ECO:0000269|PubMed:1765382}.; DISEASE: Bleeding disorder, platelet-type, 21 (BDPLT21) [MIM:617443]: 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. {ECO:0000269|PubMed:24100448, ECO:0000269|PubMed:26316623, ECO:0000269|PubMed:28255014}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Sequence-specific transcriptional activator (PubMed:24100448, PubMed:26316623, PubMed:28255014). Recognizes the DNA sequence 5'-C[CA]GGAAGT-3'. {ECO:0000269|PubMed:24100448, ECO:0000269|PubMed:26316623, ECO:0000269|PubMed:28255014}.
uniprot
proteins
mass_dalton
50982
uniprot
proteins
protein_family
ETS family
uniprot
proteins
pubmed
1394211
uniprot
proteins
pubmed
1445800
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
1522903
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
1765382
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
24100448
uniprot
proteins
pubmed
26316623
uniprot
proteins
pubmed
28255014
uniprot
proteins
pubmed
7542907
uniprot
proteins
pubmed
7773776
uniprot
proteins
pubmed
8439553
uniprot
proteins
pubmed
9751743
uniprot
proteins
sequence_length
452
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28255014}.
uniprot
proteins