User:Sumit Kamat/Sandbox Reserved 901

Overview

Histone-lysine N-methyltransferase 2A (KMT2A) 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]. The KMT2 family can mono-, di- and trimethylates histone H3K4. This family of enzymes is found within a macromolecular complex known as the COMPASS family and are highly conserved from yeast to human ^[2].

Function

The KMT2A 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. Out of the many domains, SET domain is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation ^[3]. MLL1 was found to be involved in chromosomal translocations in a variety of acute lymphoid and myeloid leukaemias ^[4].

Disease

Relevance

Structural highlights

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References

1. ↑ 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
2. ↑ PMC3711870
3. ↑ PMC 3225774
4. ↑ PMC 26886794