KMT2E
Description
The KMT2E (lysine methyltransferase 2E (inactive)) is a protein-coding gene located on chromosome 7.
Lysine methyltransferase 2E is a protein that in humans is encoded by the KMT2E gene. This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. Mutations in this gene have been associated with intellectual disability, autism, macrocephaly, hypotonia, functional gastrointestinal abnormalities and epilepsy.
KMT2E binds to chromatin regions downstream of active gene start sites, regulating gene transcription. This interaction is facilitated by binding to tri-methylated histone H3 at Lys-4 (H3K4me3). KMT2E is a key regulator of hematopoiesis, contributing to terminal myeloid differentiation and hematopoietic stem cell self-renewal through DNA methylation. It also functions as a crucial cell cycle regulator, influencing the G1/S transition, S phase progression, and mitotic entry. KMT2E is recruited to E2F1 responsive promoters by HCFC1, promoting tri-methylation of histone H3 at Lys-4 and transcriptional activation, thus promoting the G1 to S phase transition. During myoblast differentiation, KMT2E suppresses inappropriate expression of S-phase-promoting genes while maintaining the expression of determination genes in quiescent cells.
KMT2E is also known as HDCMC04P, MLL5, NKp44L, ODLURO, SETD5B.
