ASH1L Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ASH1L |
| Official Name | ASH1 like histone lysine methyltransferase [Source:HGNC Symbol;Acc:HGNC:19088] |
| Ensembl ID | ENSG00000116539 |
| Bio databases IDs | |
| Aliases | ASH1 like histone lysine methyltransferase |
| Synonyms | 8030453L17Rik, ASH1, ASH1L1, ASH1 like histone lysine methyltransferase, circASH1L, circRNA-ASH1L, E430018P19Rik, KMT2H, MRD52 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ASH1L often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PHD zinc finger
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- AWS domain
- SET binding domain
- enzyme
- Bromodomain
- histone lysine N-methyltransferase activity (H3-K9 specific)
- BAH
- BAH domain
- histone lysine N-methyltransferase activity (H3-K4 specific)
- associated with SET domains
- histone methyltransferase
- histone lysine N-methyltransferase activity (H3-K36 specific)
- SET domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- PHD finger superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Parkinson disease
- autosomal dominant mental retardation type 52
- major depression
- gastric carcinoma
- gastric epithelial cancer
- neurodevelopmental disorder
- liver cancer
- global developmental delay
- hereditary disorder
- lewy body disease
role in cell
- expression in
- production in
- motility
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Golgi Apparatus
- cell-cell contacts
- nucleoplasm
- tight junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ASH1L gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of MAPK cascade
- post-embryonic development
- regulation of transcription, DNA-dependent
- transcription from RNA polymerase II promoter
- decidualization
- positive regulation of transcription from RNA polymerase II promoter
- uterus morphogenesis
- single fertilization
- negative regulation of acute inflammatory response
- MAPK cascade
- inflammatory response
- chromatin remodeling
- skeletal system development
- sperm motility
- methylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- tight junction
- Golgi apparatus
- chromosome
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- histone methyltransferase activity (H3-K4 specific)
- DNA binding
- metal ion binding
- histone methyltransferase activity (H3-K9 specific)
- histone methyltransferase activity (H3-K36 specific)
- chromatin binding