EHMT1 (Euchromatic Histone Lysine Methyltransferase 1)
A key epigenetic regulator in neurodevelopment and cancer
Gene Information Card
| Symbol | EHMT1 |
|---|---|
| Full Name | Euchromatic Histone Lysine Methyltransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 79813 ncbi.nlm.nih.gov/gene/79813 |
| Ensembl ID | ENSG00000181090 |
| UniProt ID | Q9H9B1 |
| OMIM ID | 607001 |
| HGNC ID | 24650 |
| Aliases | GLP, KMT1D, Eu-HMTase1, bA188C12.1 |
Description
EHMT1 encodes a histone methyltransferase that specifically methylates histone H3 at lysine 9 (H3K9me1 and H3K9me2), a mark associated with transcriptional repression. The protein forms a heteromeric complex with EHMT2 (G9a) and is involved in chromatin remodeling, gene silencing, and neurodevelopment. Loss-of-function mutations cause Kleefstra syndrome, and dysregulation is implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Kleefstra syndrome | Haploinsufficiency due to heterozygous loss-of-function mutations or microdeletions at 9q34.3 | OMIM #610253; ClinVar |
| Intellectual disability | EHMT1 deficiency impairs H3K9 methylation, altering neuronal gene expression | ClinVar; NCBI |
| Autism spectrum disorder | Rare EHMT1 variants identified in ASD cohorts | ClinVar; literature |
| Cancer (various) | Altered EHMT1 expression affects tumor suppressor gene silencing | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.2 | Medium |
| Heart | 6.1 | Medium |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney |
| SH-SY5Y | 9.8 | Neuroblastoma |
| HeLa | 7.5 | Cervical carcinoma |
| K562 | 6.3 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.367C>T (p.Arg123*) | Nonsense | Rare | Loss of function; associated with Kleefstra syndrome |
| c.1885C>T (p.Arg629Trp) | Missense | Rare | Reduced methyltransferase activity |
| Whole gene deletion | Copy number loss | 0.01% | Haploinsufficiency; Kleefstra syndrome |
Mutation functional classification
Loss of Function (LOF)
Most common mechanism; heterozygous loss-of-function mutations cause Kleefstra syndrome via haploinsufficiency.
Gain of Function (GOF)
Not well documented; rare missense variants may alter substrate specificity but evidence is limited.
Dominant Negative (DN)
Not reported for EHMT1.
View complete mutation data：
Gene Ontology (GO)
| • Histone H3-K9 methyltransferase activity | • Chromatin binding |
| • Regulation of transcription | • DNA-templated |
| • Negative regulation of gene expression | • epigenetic |
| • Nervous system development |
Pathways
• Chromatin modifying enzymes
• Transcriptional regulation by EHMT1/EHMT2
Protein Summary
EHMT1 (GLP) is a 1298-amino acid protein containing a SET domain responsible for mono- and dimethylation of histone H3 lysine 9. It interacts with EHMT2 to form a functional complex that represses transcription. The protein is widely expressed, with highest levels in brain and testis. Mutations lead to neurodevelopmental disorders and are implicated in cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EHMT1 Knockout HEK293 Cell Line | EDJ-KQ51702 | Human | 79813 | Details Get a Quote |
| EHMT1 Knockout HeLa Cell Line | EDJ-KQ57234 | Human | 79813 | Details Get a Quote |
| EHMT1 Knockout A-549 Cell Line | EDJ-KQ65746 | Human | 79813 | Details Get a Quote |
| EHMT1 Knockout HCT 116 Cell Line | EDJ-KQ74163 | Human | 79813 | Details Get a Quote |
