DOT1L
Function
Histone methyltransferase. Methylates 'Lys-79' of histone H3. Nucleosomes are preferred as substrate compared to free histones (PubMed:12123582). Binds to DNA (PubMed:12628190).
Involvement in disease
Defects in DOTL1 are associated with an autosomal dominant form of global developmental delay and intellectual disability, with or without one or more major congenital anomalies (PubMed:37827158). The patient phenotypes are characterized by central nervous system (CNS) dysfunction, such as mild motor delay and significant speech and language delay, and a range of congenital anomalies, including brain structural anomalies, cardiac defects, varied urogenital features and growth restriction (PubMed:37827158). Variants may cause a gain-of-function effect leading to an increase in cellular H3K79 methylation levels (PubMed:37827158).
Sequence Similarities
Belongs to the class I-like SAM-binding methyltransferase superfamily. DOT1 family.
Cellular localization
- Nucleus
Alternative names
KIAA1814, KMT4, DOT1L, DOT1-like protein, Histone H3-K79 methyltransferase, Lysine N-methyltransferase 4, H3-K79-HMTase