ZFIN is now using GRCz12tu for Genomic Data
Gene
ehmt1a
- ID
- ZDB-GENE-040724-44
- Name
- euchromatic histone-lysine N-methyltransferase 1a
- Symbol
- ehmt1a Nomenclature History
- Previous Names
-
- si:rp71-1o1.6
- zgc:136244
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable histone H3K9 methyltransferase activity. Predicted to be involved in epigenetic regulation of gene expression and negative regulation of transcription by RNA polymerase II. Predicted to be located in chromosome. Predicted to be active in chromatin and nucleus. Human ortholog(s) of this gene implicated in Kleefstra syndrome and Kleefstra syndrome 1. Orthologous to human EHMT1 (euchromatic histone lysine methyltransferase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7154822 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Kleefstra syndrome 1 | Alliance | Kleefstra syndrome 1 | 610253 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001214 | SET domain |
| Domain | IPR007728 | Pre-SET domain |
| Domain | IPR047762 | EHMT1/2, cysteine-rich region |
| Family | IPR043550 | Histone-lysine N-methyltransferase EHMT1/EHMT2 |
| Homologous_superfamily | IPR036770 | Ankyrin repeat-containing domain superfamily |
| Homologous_superfamily | IPR046341 | SET domain superfamily |
| Repeat | IPR002110 | Ankyrin repeat |
Domain Details Per Protein
| Protein | Additional Resources | Length | Ankyrin repeat | Ankyrin repeat-containing domain superfamily | EHMT1/2, cysteine-rich region | Histone-lysine N-methyltransferase EHMT1/EHMT2 | Pre-SET domain | SET domain | SET domain superfamily |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:F1QKB1 | InterPro | 1059 | |||||||
| UniProtKB:Q6ZM72 | InterPro | 1058 | |||||||
| UniProtKB:A0A8M2BJK3 | InterPro | 1058 | |||||||
| UniProtKB:A0A8M9Q809 | InterPro | 990 | |||||||
| UniProtKB:A0AB32TR25 | InterPro | 989 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ehmt1a-201
(1)
|
Ensembl | 3,654 nt | ||
| mRNA |
ehmt1a-202
(1)
|
Ensembl | 1,800 nt | ||
| mRNA |
ehmt1a-203
(1)
|
Ensembl | 3,795 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers