Gene
efhc1
- ID
- ZDB-GENE-040426-1300
- Name
- EF-hand domain (C-terminal) containing 1
- Symbol
- efhc1 Nomenclature History
- Previous Names
-
- zgc:63931 (1)
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to have alpha-tubulin binding activity. Predicted to be involved in cilium-dependent cell motility; mitotic cytokinesis; and mitotic spindle organization. Predicted to localize to axoneme and mitotic spindle. Human ortholog(s) of this gene implicated in juvenile absence epilepsy 1 and juvenile myoclonic epilepsy. Is expressed in several structures, including Kupffer's vesicle; central nervous system; forerunner cell group; neural tube; and pronephros. Orthologous to human EFHC1 (EF-hand domain containing 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:63931 (10 images)
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 |
|---|---|---|---|
| juvenile absence epilepsy 1 | Alliance | {Epilepsy, juvenile absence, susceptibility to, 1} | 607631 |
| juvenile myoclonic epilepsy | Alliance | {Myoclonic epilepsy, juvenile, susceptibility to, 1} | 254770 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | DM10 domain | EF-hand domain-containing protein EFHC1/EFHC2/EFHB |
|---|---|---|---|
|
UniProtKB:Q7T2F1
|
554 |
Interactions and Pathways
No data available
Plasmids
No data available