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tel proto-oncogene protein; transcription factor ETV6; ETS translocation variant 6; ETS-related protein Tel1; Tel (ETV6, TEL, TEL1)
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: nucleus
Expression: ubiquitous
Pathology:
- chromosomal translocations involving ETV6
a) 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
b) t(12;22)(p13;q11) with MN1 is found in a form of acute myeloid leukemia (AML)
c) t(4;12)(q12;p13) with CHIC2 is found in a form of acute myeloid leukemia (AML)
d) t(12;21)(p13;q22) with RUNX1/AML1 is found in B-cell lymphoblastic leukemia
e) t(9;12)(p24;p13) with JAK2 is found in a form of acute myeloid leukemia
f) t(9;12)(p13;p13) with PAX5 is a cause of acute lymphoblastic leukemia
g) t(5;12)(q31;p13) with ACSL6 may be a cause of myelodysplastic syndrome (MDS) with basophilia or acute eosinophilic leukemia
h) 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
General
DNA-binding protein
phosphoprotein
proto oncogene protein
Properties
SIZE: entity length = 452 aa
MW = 53 kD
COMPARTMENT: cell nucleus
MOTIF: breakpoint {11-12}
Ser phosphorylation site {S22}
PNT {38-124}
MOTIF: breakpoint {54-55}
breakpoint {55-56}
Ser phosphorylation site {S257}
breakpoint {336-337}
ETS domain
NAME: ETS domain
SITE: 339-420
Database Correlations
OMIM correlations
MORBIDMAP 600618
UniProt P41212
PFAM correlations
Kegg hsa:2120
References
- UniProt :accession P41212
- 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: 8168137