protein
| member of a multiprotein supercomplex composed of > or =29 proteins including TFIID (including TBP), SWI/SNF, NuRD, hSNF2H, and Sin3A |
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C20orf13 |
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MYST1 zinc finger domain |
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AFF1 in MLL/AFF1 fusion gene (regulating CDKN1B) |
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WDR5 (WDR5 recognizes Arg-3765 of MLL, which is essential for the assembly and enzymatic activity of the MLL core complex) |
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CXXC1 (interacts with MLL1, MLL2 as well as SETD1A and plays critical roles in regulations of MLL target genes) |
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member of MYST family histone acetyl transferases, homolog of Drosophila MOF |
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Histone deacetylase 1 (HDAC1) |
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Polycomb group proteins HPC2 and BMI1 polycomb ring finger oncogene (BMI-1) and the corepressor C-terminal-binding protein (CTBP1) |
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CREB-binding protein (CREBBP) |
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interacting with PPIE, which negatively regulates the function of MLL |
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growth arrest and DNA-damage-inducible 34 (GADD34) |
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SET nuclear oncogene (SET) |
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menin (MEN1) |
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preferentially binds H3K4me3 |
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role of the interaction between KAT6A and KMT2A in CD34+ cells in which both proteins have a critical role in hematopoietic cell-fate decision, suggesting a new molecular mechanism by which KAT6A or KMT2A deregulation leads to leukemogenesis |
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ESR1, ESR2 coordinate with MLL and MLL3 in E2-mediated transcriptional regulation of HOXB9 |
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multiple lineage leukemia gene (KMT2A) and DOT1L associations with the IgH gene were also impaired in the absence of ELL2 |
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MEN1 interacts with MLL, a histone H3 lysine 4 methyltransferase, and functions as an oncogenic cofactor to upregulate gene transcription |
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WDR5 binds the conserved WDR5 interaction (Win) motif of KMT2A, an interaction that is required for the H3K4 dimethylation activity of the KMT2A core complex |
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FRAT2 mediates the oncogenic activation of RAC1 by KMT2A fusions |
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RNF20 is a key requirement for KMT2A-fusion leukemia through regulatory cross talk with DOT1L |
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FLT3-mediated inhibition of hematopoiesis in KMT2A-AFF1-expressing hESCs, which is associated with large transcriptional changes and downregulation of genes involved in hematopoietic system development and function |
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SYMPK interacts and co-localizes with both KAT6A and KDMT2A in immature hematopoietic cells |
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KMT2A collaborate with ESR1 to regulate HOXA10 expression in AML |
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ASH1L cooperated functionally with KMT2A, as combined loss of ASH1L and KMT2A, but not isolated ASHLl or KMT2A deficiency, induced overt hematopoietic failure |
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PSIP1 interactions with transcriptional repressor CDCA7L and domesticated transposase POGZ, and the POGZ interaction is nearly identical to the interaction of PSIP1 with KMT2A |
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KMT2A/MLL1 is required for the genomic targeting of RPS6KA5, but not vice versa |
Other morbid association(s)
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Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
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tumoral
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| translocation
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in infant acute lymphoblastic T cell leukemia with translocations with 1(p32), 1(q21), 2(q11), 4(q21), 5(q31), 6(q27), 9(p22), 10(p12), 10(q22), 17(q21), 19(p13), X(q13) | tumoral
| fusion
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with AF1Q, F10, AF4L, EEN, ELL, EPS15, LAF4, MLLT2, MLLT4, MLLT3, MLLT6, FOXO4, MLLT1, FBP17, SEPT6, SEPT9, CXXC6 in infant acute lymphoblastic or myeloid T cell leukemia | tumoral
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| deletion
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intragenic duplication, also in acute myeloid leukemia with partial deletion, maybe also involving dominant negative forms of the antileukemic transcription factor Ikaros (ZNFN1A1) | tumoral
| fusion
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fused to LPP in translocation t(3;11)(q28;q23) in a secundary acute leukemia | tumoral
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| translocation
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involves MLL, MLLT3, and CCDC94 in the pathogenesis of acute myeloid leukemia with t(9;11;19)(p22;q23;p13.3) | tumoral
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| translocation
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in lymphoid leukemia, with t(4;11)(p12;q23) resulting in the creation of a chimeric RNA encoding a putative fusion protein containing 1,362 amino acids from the NH2-terminal part of MLL and 712 amino acids from the COOH-terminal part of FRYL | constitutional
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| --low
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results in cell cycle arrest at the G2/M phase | tumoral
| fusion
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MLL-KIAA0284 fusion gene in a patient with secondary acute myeloid leukemia and t(11;14)(q23;q32)( | tumoral
| fusion
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with NEBL in a case of acute myeloid leukemia in an infant | tumoral
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| translocation
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in diffuse large B-cell lymphomas | tumoral
| fusion
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SEPTIN11/KMT2A in acute lymphoblastic leukemia (ALL) | |
| Mll heterozygous (+/-) mice have retarded growth, haematopoietic abnormalities, and demonstrate bidirectional homeotic transformations of the axial skeleton and sternal malformations. Mll deficiency (-/-) mouse is embryonic lethal | |
primitive human hematopoietic cells expressing a mixed-lineage leukemia (MLL) fusion gene transplantated into immunodeficient mice generate myeloid or lymphoid acute leukemias |
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Mice with Mll expression conditionally deleted in the hematopoietic system have grossly normal hematopoiesis in bone marrow, thymus, and spleen |