ASH1L

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]

Full Name

ash1 (absent, small, or homeotic)-like (Drosophila)

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).

Biological Process

Decidualization Source: Ensembl
Flagellated sperm motility Source: Ensembl
Histone H3-K36 dimethylation Source: HGNC
Negative regulation of acute inflammatory response Source: Ensembl
Negative regulation of I-kappaB kinase/NF-kappaB signaling Source: Ensembl
Negative regulation of MAPK cascade Source: Ensembl
Positive regulation of transcription by RNA polymerase II Source: Ensembl
Post-embryonic development Source: Ensembl
Single fertilization Source: Ensembl
Skeletal system development Source: Ensembl
Tarsal gland development Source: Ensembl
Uterine gland development Source: Ensembl
Uterus morphogenesis Source: Ensembl

Cellular Location

Nucleus; Tight junction; Chromosome. The relevance of tight junction localization is however unclear.

Involvement in disease

Mental retardation, autosomal dominant 52 (MRD52): A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

PTM

Methylated at Gln-1220 by N6AMT1.