Ash1l Gene Summary [Mouse]
Enables histone H3K4 methyltransferase activity and histone H3K9 methyltransferase activity. Acts upstream of or within several processes, including decidualization; tarsal gland development; and uterine gland development. Predicted to be located in Golgi apparatus and nucleus. Predicted to be active in nucleoplasm. Is expressed in cerebral cortex; early conceptus; hindlimb muscle; oocyte; and ureter. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 52. Orthologous to human ASH1L (ASH1 like histone lysine methyltransferase). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ash1l |
| Official Name | ASH1 like histone lysine methyltransferase [Source:MGI Symbol;Acc:MGI:2183158] |
| Ensembl ID | ENSMUSG00000028053 |
| 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 | Mouse, Mus musculus |
| 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 mouse 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
phenotypes
- abnormal coat appearance
- impaired pupillary reflex
- increased heart weight
- preweaning lethality complete penetrance
- abnormal cauda epididymis morphology
- abnormal corneal epithelium morphology
- abnormal decidualization
- abnormal epididymis morphology
- abnormal postimplantation uterine environment
- abnormal sperm number
- abnormal sternum morphology
- abnormal uterus morphology
- abnormal vas deferens morphology
- absent Meibomian glands
- asymmetric sternocostal joints
- blepharitis
- decreased abdominal adipose tissue amount
- decreased body size
- decreased body weight
- decreased endometrial gland number
- decreased sebaceous gland number
- decreased survivor rate
- female infertility
- glomerulonephritis
- increased IgA level
- increased IgG1 level
- increased IgG2a level
- increased IgG2b level
- increased IgM level
- increased autoantibody level
- increased circulating interleukin-6 level
- increased circulating tumor necrosis factor level
- increased interleukin-6 secretion
- increased rib number
- increased susceptibility to autoimmune disorder
- increased susceptibility to bacterial infection
- increased susceptibility to bacterial infection induced morbidity/mortality
- increased susceptibility to endotoxin shock
- increased susceptibility to induced arthritis
- increased tumor necrosis factor secretion
- postnatal growth retardation
- pulmonary hyperemia
- reduced male fertility
- small uterus
- thin endometrium
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 mouse 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