AF9 Proteins

Protein Information

The human AF9 gene is one of the most common fusion partner genes with the ALL1 gene at 11q23 (also called MLL), resulting in the t(9;11)(p22;q23). The AF9 gene is more than 100 kb, and 2 patient breakpoint cluster regions (BCRs) have been identified; BCR1 is within intron 4, previously called site A, whereas BCR2 or site B spans introns 7 and 8. Several different structural elements have been identified in AF9, including a colocalizing in vivo DNA topo II cleavage site and an in vitro DNase I hypersensitive (DNase 1 HS) site in intron 7 in BCR2. Reversibility experiments demonstrated a religation of the topo II cleavage sites. In addition, 2 scaffold associated regions (SARs) are located centromeric to the topo II and DNase I HS cleavage sites and border breakpoint regions in 2 leukemic cells lines: SAR1 is located in intron 4, whereas SAR2 encompasses parts of exons 5-7. The patient breakpoint regions of AF9 share the same structural elements as the MLL BCR. A DNA breakage and repair model for nonhomologous recombination between MLL and its partner genes, particularly AF9, has been proposed.

Synonyms

2210011H10Rik; 2610012I03Rik; 3830408D16Rik; AF9; Af-9; AF-9 protein; ALL1-fused gene from chromosome 9 protein; D4Ertd321e; MLLT3; MLLT3, super elongation complex subunit; myeloid/lymphoid or mixed lineage-leukemia translocation to 3 homolog; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 3; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3; myeloid/lymphoid or mixed-lineage leukemia translocated to chromosome 3 protein; myeloid/lymphoid or mixed-lineage leukemia translocated to chromosome 3 protein homolog; myeloid/lymphoid or mixed-lineage leukemia, translocated to, 3; myeloid/lymphoid or mixed-lineage leukemia,translocated to, 3 (trithorax homolog, Drosophila); myeloid/lymphoid or mixed-lineage leukemia; translocated to 3; myeloid/lymphoid or mixed-lineage leukemia; translocated to, 3; protein AF-9; translocated to, 3; YEATS domain-containing protein 3; YEATS3