Overview
Histone-lysine N-methyltransferase 2A (KMT2A) which is also known as acute lymphoblastic leukemia 1 (ALL-1) is an enzyme that in humans is encoded by the KMT2A gene. KMT2A is a histone methyltransferase is a positive global regulator of gene transcription. The protein comes from a group of histone-modifying enzymes comprising transactivation domain 9aaTAD and is involved in the epigenetic maintenance of transcriptional memory [1]. This gene encodes a transcriptional coactivator that plays an important role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation [2] .
This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.
Function
Disease
Relevance
Structural highlights
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References
- ↑ Ziemin-van der Poel S, McCabe NR, Gill HJ, Espinosa R 3rd, Patel Y, Harden A, Rubinelli P, Smith SD, LeBeau MM, Rowley JD, et al.. Identification of a gene, MLL, that spans the breakpoint in 11q23 translocations associated with human leukemias. Proc Natl Acad Sci U S A. 1991 Dec 1;88(23):10735-9. doi:, 10.1073/pnas.88.23.10735. PMID:1720549 doi:http://dx.doi.org/10.1073/pnas.88.23.10735
- ↑ PMC 1560414
