Gene
ehmt1b
- ID
- ZDB-GENE-080515-3
- Name
- euchromatic histone-lysine N-methyltransferase 1b
- Symbol
- ehmt1b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have histone-lysine N-methyltransferase activity; p53 binding activity; and zinc ion binding activity. Predicted to be involved in histone lysine methylation. Predicted to localize to chromosome 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
- 1 figure from Sun et al., 2008
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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
No data available
Domain Details Per Protein
Protein | Length |
---|---|
UniProtKB:A0A8M1NVV8
|
1278 |
UniProtKB:A0A8M9PI65
|
1285 |
UniProtKB:A0A8M3AWQ8
|
1265 |
UniProtKB:A0A8M3AM13
|
1286 |
UniProtKB:A0A8M3B4K4
|
1288 |
UniProtKB:A0A8M9PQC0
|
1247 |
UniProtKB:A0A8M9PTR6
|
1278 |
UniProtKB:A0A8M2B810
|
1280 |
UniProtKB:A0A8M9P384
|
1295 |
UniProtKB:A0A8M9PCJ6
|
1287 |
Type | Name | Length (nt) | Analysis |
---|---|---|---|
mRNA |
ehmt1b-202
(1)
|
4502 nt | |
ncRNA |
ehmt1b-002
(1)
|
918 nt | |
ncRNA |
ehmt1b-003
(1)
|
862 nt | |
ncRNA |
ehmt1b-004
(1)
|
625 nt |
Interactions and Pathways
No data available
Plasmids
No data available