tel proto-oncogene protein; transcription factor ETV6; ETS translocation variant 6; ETS-related protein Tel1; Tel (ETV6, TEL, TEL1)
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Function
- transcriptional repressor
- binds to the DNA sequence 5'-CCGGAAGT-3'
- can form homodimers or heterodimers with TEL2 or FLI1
- interacts with L3MBTL & HDAC9
- phosphorylated
- phosphorylation of Ser-257 by MAPK14 (p38) inhibits ETV6 transcriptional repression
Structure
- belongs to the ETS family
- contains 1 ETS DNA-binding domain
- contains 1 PNT (pointed) domain
Compartment
Expression
Pathology
- chromosomal translocations involving ETV6
- t(5;12)(q33;p13) with PDGFRB is found in a form of chronic myelomonocytic leukemia (CMML); translocation results in an ETV6-PDGFRB fusion protein
- t(12;22)(p13;q11) with MN1 is found in a form of acute myeloid leukemia (AML)
- t(4;12)(q12;p13) with CHIC2 is found in a form of acute myeloid leukemia (AML)
- t(12;21)(p13;q22) with RUNX1/AML1 is found in B-cell lymphoblastic leukemia
- t(9;12)(p24;p13) with JAK2 is found in a form of acute myeloid leukemia
- t(9;12)(p13;p13) with PAX5 is a cause of acute lymphoblastic leukemia
- t(5;12)(q31;p13) with ACSL6 may be a cause of myelodysplastic syndrome (MDS) with basophilia or acute eosinophilic leukemia
- t(1;12)(p36.1;p13) with MDS2 is a cause of myelodysplastic syndrome
- chromosomal aberration involving ETV6 is a cause of chronic myeloproliferative disorder with eosinophilia
- defects in ETV6 are a cause of acute myelogenous leukemia
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P41212.html
- ↑ Atlas of genetics & cytogenetics in oncology & haematology http://atlasgeneticsoncology.org/genes/ETV6ID38.html
- ↑ Golub TR, Barker GF, Lovett M, Gilliland DG. Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation. Cell. 1994 Apr 22;77(2):307-16. PMID: https://www.ncbi.nlm.nih.gov/pubmed/8168137