protein
| CBFB |
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fusion protein RUNX1/RUNX1T1 up-regulating NTRK1 expression in CD34+ cells |
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target genes controlled by RUNX1 will have considerable importance in disease progression in both familial and sporadic leukemia as well as therapeutic implications |
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interaction between RUNX1 and EVI1 altering the ability of RUNX1 to bind to DNA and to regulate a reporter gene, whereas the expression of the isolated 8th zinc finger motif of EVI1 is sufficient to block the granulocyte colony-stimulating factor leading to cell death |
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RUNX1/RUNX1T1 interacts with SP1 (promotes leukemogenesis by blocking cell differentiation through inhibition of SP1 transactivity) |
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ALOX12 is a direct transcriptional target of RUNX1 |
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interacting with STAT5B (inhibits the nuclear localization of RUNX proteins and retains them in the cytoplasm) |
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TAL1 interacts with RUNX1 and ETS1, and these transcription factors are critically required for TAL1 binding to genes that modulate T-cell differentiation |
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C16orf54 is a novel transcriptional target of RUNX1 at the onset of hematopoietic development that is extensively expressed within the hematopoietic system |
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cooperates with SPI1 to activate myeloid differentiation genes, such as macrophage and granulocyte macrophage colony-stimulating factor receptors (MCSFR and GMCSFR) |
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in conjunction with FLI1, GATA2, and TAL1, directly regulates the expression of SMAD6 in the aorta-gonad-mesonephros (AGM) region in the developing embryo |
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functional and coordinated role for RUNX1 and CEBPB transcription factors during activation of P2RX3 gene transcription |
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binds the SERPINB13 promoter in chromatin to repress its transcription |
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may negatively regulate cyclin A1 expression in hematopoietic cells |
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role of RUNX1 in mediating interactions between distal and proximal elements of the haematopoietic stem cell gene CD34 |
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concerted action of the transcription factor RUNX1, together with the epigenetic repressor PCGF1, is necessary for terminal differentiation |
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PRMT1 interacts with RUNX1-RUNX1T1 to promote its transcriptional activation and progenitor cell proliferative potential |
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GFI1 and GFI1B are direct targets of RUNX1 and critical regulators of endothelial to hematopoietic transition (EHT) |
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RUNX1 and ELK1, two proteins with essential functions in hematopoiesis, regulate MECOM in acute myeloid leukemia |
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RUNX1 interacts with two novel protein partners, KDM1A and MYEF2, in erythroid cells |
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RUNX1 acts as a co-activator for TP53 in response to DNA damage |
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RUNX1 activates endogenous PF4 expression in megakaryocytic differentiation |
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MYSM1 directly associates with the GFI1 enhancer element and promotes its transcription through GATA2 and RUNX1 transactivation |
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critical role of direct ETS1•RUNX1 interaction in ETS1 activation |
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LIFR is a transcriptional target of RUNX1,suggesting that disruption of RUNX1 activity in myeloid cells may result in altered LIFR signaling in these cells |
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JMJD1C functions as a coactivator for RUNX1-RUNX1T1 and is required for its transcriptional program |
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BLOC1S6 is a direct target of RUNX1 and its dysregulation is a mechanism for platelet DG deficiency associated with RUNX1 haplodeficiency |
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MECOM promotes CKMT1A expression by repressing the myeloid differentiation regulator RUNX1 |
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RUNX1 and RUNX3 also maintain genomic integrity in a non-transcriptional manner during interstand crosslink repair by promoting the recruitment of FANCD2 to sites of DNA damage |
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E3 ubiquitin ligase STUB1 is a negative regulator of both RUNX1 and RUNX1-RUNX1T1 |
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TAL1 together with hematopoietic transcription factors RUNX1 and GATA1 binds to the promoter of the isoform 3 of PRKACB |
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NOTCH4 expression was negatively controlled by RUNX1 via a novel regulatory DNA element within the locus, and we examined its involvement in Megakaryocytes (MKs) generation |
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ZFP36L2 could be transactivated by RUNX1, which subsequently induced cell-cycle arrest and apoptosis of leukemia cells |
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FUBP1 and RUNX1 cooperate for the regulation of the expression of the oncogene KIT |
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interplay between transcription regulators RUNX1 and FUBP1 activates an enhancer of the oncogene KIT and amplifies cell proliferation |
Other morbid association(s)
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Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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tumoral
| fusion
|  
|  
|  
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fused with FGA7 in t(4;21) (q31;q22) in T cell acute leukemia | tumoral
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| LOH
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|  
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in acute myeloid leukemia | tumoral
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|  
| gain of function
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in acute myeloid leukemia | tumoral
| fusion
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|  
|  
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with CBFA2T1 in acute myeloid leukemia (AML1-ETO) with t(8;21)(q22;q22), often associated with prior therapy t(17;21)(q11.2;q22) and others myelodysplasia syndrome with t(3;21)(q26;q22), acute lymphoblastic leukemia with t(12;21)(p13;q22) only in childhood | tumoral
| fusion
|  
|  
|  
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fusion with PRDM16 in a patient with acute myeloid leukemia showing t(1;21)(p36;q22) | tumoral
|  
|  
| --low
|  
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in acute megakaryoblastic leukemia of Down syndrome | tumoral
| somatic mutation
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|  
|  
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in high-risk myelodysplastic syndrome | tumoral
| fusion
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|  
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AML1-ETO9a leads to rapid development of leukemia and results in the substantially earlier onset of AML because blocks myeloid cell differentiation at a more immature stage (arg-methyaltion sites are lost in the fusion protein and contribute to its dominant inhibitory activity | tumoral
| fusion
|  
|  
|  
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with ZFPM2, in myelodysplasia | tumoral
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| translocation
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|  
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t(9;21)(q34;q22), in myeloproliferative syndrome with with a high risk of transformation to acute myeloid leukemia | tumoral
| somatic mutation
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|  
|  
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deregulated alternative splicing of AML1b transcripts may potentially contribute to the pathophysiology of ovarian cancers | tumoral
| fusion
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|  
|  
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LRP16 fusion partner involving t(11;21)(q13;q22) in monocytic leukemia | tumoral
| fusion
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|  
|  
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with LPXN in an acute myeloid leukemia (AML) patient with t(11;21)(q12;q22) | tumoral
| fusion
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|  
|  
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with AFF3, partner of MLL, in childhood T-cell acute lymphoblastic leukemia with t(2;21)(q11;q22) | tumoral
| fusion
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|  
|  
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cryptic inversion of chromosomal region 21q21-22 leading to break and fusion of RUNX1 to USP16, in chronic myelomonocytic leukemia ) | constitutional
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| --over
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of CHRNG, CHRND, NCAM1, RUNX1 associated with neuromuscular junction denervation in ageing | tumoral
|  
|  
| --over
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with NFE2 in granulocytes of patients with polycythemia vera and other myeloproliferative neoplasms | |