Ehmt1 Gene Summary [Mouse]
Enables C2H2 zinc finger domain binding activity; histone H3K27 methyltransferase activity; and histone H3K9 methyltransferase activity. Involved in several processes, including negative regulation of macromolecule biosynthetic process; peptidyl-lysine methylation; and positive regulation of cold-induced thermogenesis. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and respiratory system. Used to study Kleefstra syndrome 1. Human ortholog(s) of this gene implicated in Kleefstra syndrome and Kleefstra syndrome 1. Orthologous to human EHMT1 (euchromatic histone lysine methyltransferase 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ehmt1 |
| Official Name | euchromatic histone methyltransferase 1 [Source:MGI Symbol;Acc:MGI:1924933] |
| Ensembl ID | ENSMUSG00000036893 |
| Bio databases IDs | |
| Aliases | euchromatic histone methyltransferase 1 |
| Synonyms | 9230102N17Rik, D330003E03, EHMT1-IT1, EMT1, euchromatic histone lysine methyltransferase 1, euchromatic histone methyltransferase 1, EUHMTASE1, FP13812, GLP, GLP1, KLEFS1, KMT1D, LOC100909589, LOC103691745, mKIAA1876 |
| 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 Ehmt1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ankyrin repeats (many copies)
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- Ankyrin repeats (3 copies)
- transcription factor binding
- protein domain specific binding
- enzyme
- protein binding
- p53 binding
- Ankyrin repeat
- protein-lysine N-methyltransferase
- histone lysine N-methyltransferase activity (H3-K9 specific)
- methyltransferase
- Pre-SET motif
- histone-lysine N-methyltransferase
- histone lysine N-methyltransferase activity (H3-K27 specific)
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- SET domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- ankyrin repeats
- N-terminal to some SET domains
Pathways
Biological processes and signaling networks where the Ehmt1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- atopic dermatitis
- plasma cell myeloma
- asthma
- chromosome 9q subtelomeric deletion syndrome
- marfanoid habitus with mental retardation
- celiac disease
- hereditary disorder
- mental retardation
- head and neck cancer
phenotypes
- abnormal behavior
- abnormal iris morphology
- abnormal optic disk morphology
- abnormal retinal blood vessel morphology
- abnormal retinal vasculature morphology
- corneal opacity
- decreased blood urea nitrogen level
- decreased circulating glucose level
- decreased circulating serum albumin level
- decreased exploration in new environment
- hyperactivity
- hypoactivity
- impaired pupillary reflex
- increased anxiety-related response
- increased circulating HDL cholesterol level
- increased circulating LDL cholesterol level
- increased circulating cholesterol level
- increased lean body mass
- increased mean platelet volume
- increased thigmotaxis
- irregularly shaped pupil
- persistence of hyaloid vascular system
- preweaning lethality complete penetrance
- abnormal anxiety-related response
- abnormal associative learning
- abnormal dendrite morphology
- abnormal dendritic spine morphology
- abnormal epigenetic regulation of gene expression
- abnormal exploration in a new environment
- abnormal hippocampus pyramidal cell morphology
- abnormal locomotor activation
- abnormal metopic suture morphology
- abnormal miniature excitatory postsynaptic currents
- abnormal nasal bone morphology
- abnormal object recognition memory
- abnormal response to novel object
- abnormal sensory capabilities/reflexes/nociception
- abnormal social investigation
- abnormal social/conspecific interaction
- abnormal suckling behavior
- absent gastric milk in neonates
- decreased anxiety-related response
- decreased birth body size
- decreased embryo weight
- decreased fetal weight
- decreased survivor rate
- decreased vertical activity
- delayed intramembranous bone ossification
- embryonic growth retardation
- embryonic lethality during organogenesis complete penetrance
- enhanced paired-pulse facilitation
- impaired contextual conditioning behavior
- impaired cued conditioning behavior
- impaired synaptic plasticity
- incomplete somite formation
- increased startle reflex
- malocclusion
- no abnormal phenotype detected
- open neural tube
- postnatal growth retardation
- postnatal lethality incomplete penetrance
- prenatal growth retardation
role in cell
- migration
- expression in
- apoptosis
- proliferation
- cell death
- upregulation in
- cell viability
- binding in
- organization
- abnormal morphology
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
- nucleoplasm
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ehmt1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- response to fungicide
- negative regulation of transcription, DNA-dependent
- regulation of embryonic development
- peptidyl-lysine monomethylation
- chromatin organization
- peptidyl-lysine dimethylation
- methylation-dependent chromatin silencing
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- transcription corepressor binding
- p53 binding
- zinc ion binding
- protein binding
- C2H2 zinc finger domain binding
- histone methyltransferase activity (H3-K9 specific)
- methyltransferase activity
- protein-lysine N-methyltransferase activity
- histone methyltransferase activity (H3-K27 specific)