Aliases for ASH1L Gene
External Ids for ASH1L Gene
Previous GeneCards Identifiers for ASH1L Gene
This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]
GeneCards Summary for ASH1L Gene
ASH1L (ASH1 Like Histone Lysine Methyltransferase) is a Protein Coding gene. Diseases associated with ASH1L include Intellectual Disability And/Or Autism Spectrum Disorder, Ash1l-Related and Dental Pulp Disease. Among its related pathways are Lysine degradation and PKMTs methylate histone lysines. GO annotations related to this gene include chromatin binding and histone methyltransferase activity (H3-K4 specific). An important paralog of this gene is SETD2.
UniProtKB/Swiss-Prot for ASH1L Gene
Histone methyltransferase specifically methylating Lys-36 of histone H3 (H3K36me).