ASH1L
Function
Histone methyltransferase specifically trimethylating 'Lys-36' of histone H3 forming H3K36me3 (PubMed:21239497). Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro (By similarity). The physiological significance of the H3K9me1 activity is unclear (By similarity).
Involvement in disease
Intellectual developmental disorder, autosomal dominant 52
MRD52
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Methylated at Gln-1220 by N6AMT1.
Sequence Similarities
Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily.
Tissue Specificity
Widely expressed, with highest level in brain, heart and kidney.
Cellular localization
- Nucleus
- Cell junction
- Tight junction
- Chromosome
- The relevance of tight junction localization is however unclear.
Alternative names
KIAA1420, KMT2H, ASH1L, Histone-lysine N-methyltransferase ASH1L, ASH1-like protein, Absent small and homeotic disks protein 1 homolog, Lysine N-methyltransferase 2H, huASH1