RUNX1T1
Domain
The TAFH domain mediates interaction with transcription regulators.
Nervy homology region 2 (NHR2) mediates homo- and possibly heterotypic oligomerization by forming a four-helix bundle tetrameric structure.
Function
Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:10688654, PubMed:12559562, PubMed:15203199). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). Can repress transactivation mediated by TCF12 (PubMed:16803958). Acts as a negative regulator of adipogenesis (By similarity). The AML1-MTG8/ETO fusion protein frequently found in leukemic cells is involved in leukemogenesis and contributes to hematopoietic stem/progenitor cell self-renewal (PubMed:23812588).
Involvement in disease
A chromosomal aberration involving RUNX1T1 is frequently found in acute myeloid leukemia with maturation (AML-M2). Translocation t(8;21)(q22;q22) with RUNX1/AML1 that results in the production of AML1-MTG8/ETO fusion protein.
Sequence Similarities
Belongs to the CBFA2T family.
Tissue Specificity
Most abundantly expressed in brain. Lower levels in lung, heart, testis and ovary.
Cellular localization
- Nucleus
- Colocalizes with ATN1 in discrete nuclear dots.
Alternative names
AML1T1, CBFA2T1, CDR, ETO, MTG8, ZMYND2, RUNX1T1, Protein CBFA2T1, Cyclin-D-related protein, Eight twenty one protein, Protein ETO, Protein MTG8, Zinc finger MYND domain-containing protein 2