DOT1L
Function
Histone methyltransferase that methylates 'Lys-79' of histone H3 (PubMed:12123582, PubMed:38503750, PubMed:38129415). Nucleosomes are preferred as substrate compared to free histones (PubMed:12123582, PubMed:38503750). Binds to DNA (PubMed:12628190, PubMed:38503750).
Involvement in disease
Nil-Deshwar neurodevelopmental syndrome
NDNS
An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, hypotonia, and various heterogeneous congenital anomalies, including brain, cardiac and urogenital abnormalities.
None
The disease is caused by variants affecting the gene represented in this entry. Disease-causing variants may act through a gain-of-function effect leading to an increase in cellular H3K79 methylation levels.
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, Disruptor of telomeric silencing 1-like histone lysine methyltransferase, Histone H3-K79 methyltransferase, Lysine N-methyltransferase 4, H3-K79-HMTase