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Rabbit Anti-ETV6 / Tel/FITC Conjugated antibody
background:
ETV6 is the prototype member of a family of genes identified on the basis of homology to the v-Ets oncogene isolated from the E26 erythroblastosis virus. Members of the Ets gene family exhibit varied patterns of tissue expression and share a highly conserved carboxy terminal domain containing a sequence related to the SV40 large T antigen nuclear localization signal sequence. This conserved domain is essential for Ets-1 binding to DNA and is likely to be responsible for the DNA binding activity of all members of the Ets gene family. Several of these proteins have been shown to recognize similar motifs in DNA that share a centrally located 5’-GGAA-3’ element. TEL (for translocation, Ets, leukemia), also designated ETV6, is a member of the Ets family that is involved in specific chromosomal translocations in human leukemia and sarcoma.
Function:
Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'.
Subunit:
Can form homodimers or heterodimers with TEL2 or FLI1. Interacts with L3MBTL1 and HDAC9.
Subcellular Location:
Nucleus.
Tissue Specificity:
Ubiquitous.
Post-translational modifications:
Phosphorylation of Ser-257 by MAPK14 (p38) inhibits ETV6 transcriptional repression.
DISEASE:
Note=A chromosomal aberration involving ETV6 is found in a form of chronic myelomonocytic leukemia (CMML). Translocation t(5;12)(q33;p13) with PDGFRB. It is characterized by abnormal clonal myeloid proliferation and by progression to acute myelogenous leukemia (AML).
Note=Chromosomal aberrations involving ETV6 are found in a form of acute myeloid leukemia (AML). Translocation t(12;22)(p13;q11) with MN1; translocation t(4;12)(q12;p13) with CHIC2.
Note=Chromosomal aberrations involving ETV6 are found in childhood acute lymphoblastic leukemia (ALL). Translocations t(12;21)(p12;q22) and t(12;21)(p13;q22) with RUNX1/AML1.
Note=A chromosomal aberration involving ETV6 is found in a form of pre-B acute myeloid leukemia. Translocation t(9;12)(p24;p13) with JAK2.
Note=A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS) with basophilia. Translocation t(5;12)(q31;p13) with ACSL6.
Note=A chromosomal aberration involving ETV6 is found in acute eosinophilic leukemia (AEL). Translocation t(5;12)(q31;p13) with ACSL6.
Note=A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS). Translocation t(1;12)(p36.1;p13) with MDS2.
Defects in ETV6 are a cause of myeloproliferative disorder chronic with eosinophilia (MPE) [MIM:13188]. A hematologic disorder characterized by malignant eosinophils proliferation. Note=A chromosomal aberration involving ETV6 is found in many instances of myeloproliferative disorder chronic with eosinophilia. Translocation t(5;12) with PDGFRB on chromosome 5 creating an ETV6-PDGFRB fusion protein.
Defects in ETV6 are a cause of acute myelogenous leukemia (AML) [MIM:601626]. AML is a malignant disease in which hematopoietic precursors are arrested in an early stage of development.
Note=A chromosomal aberration involving ETV6 is found in acute lymphoblastic leukemia. Translocation t(9;12)(p13;p13) with PAX5.
Similarity:
Belongs to the ETS family.
Contains 1 ETS DNA-binding domain.
Contains 1 PNT (pointed) domain.
Database links:
Entrez Gene: 2120 Human
Omim: 600618 Human
SwissProt: P41212 Human
Unigene: 504765 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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