EFHC1 Gene Summary [Human]
This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
Details
| Type | Processed Transcript |
| Official Symbol | EFHC1 |
| Official Name | EF-hand domain containing 1 [Source:HGNC Symbol;Acc:HGNC:16406] |
| Ensembl ID | ENSG00000096093 |
| Bio databases IDs | |
| Aliases | EF-hand domain containing 1, myoclonin-1 |
| Synonyms | 1700029F22RIK, dJ304B14.2, EF-hand domain containing 1, EF-hand domain (C-terminal) containing 1, EJM1, LOC684521, mRib72-1, myoclonin1, POC9, RIB72 |
| Species | Human, Homo sapiens |
| 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 human EFHC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- EF-hand, calcium binding motif
- EF-hand domain
- DM10 domain
- EF-hand domain pair
- alpha-tubulin binding
- EFh
- protein binding
- Domains in hypothetical proteins in Drosophila, C
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- seizures
- myocarditis
- susceptibility to juvenile myoclonic epilepsy type 1
- peripheral arterial disease
- susceptibility to juvenile absence epilepsy type 1
- juvenile myoclonic epilepsy
- myoclonus
- epilepsy
- absence seizure
- atopic dermatitis
regulates
- voltage-gated calcium channel
role in cell
- migration
- apoptosis
- motility
- organization
- cell division
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cilia
- centrosome
- axonemes
- spindle pole
- sperm tail
- mitotic spindle
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EFHC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of cell division
- mitotic spindle organization
- cytokinesis after mitosis
- ciliary cell motility
- cerebral cortex cell migration
Cellular Component
Where in the cell the gene product is active
- centrosome
- axonemal microtubule
- mitotic spindle
- spindle pole
- neuronal cell body
- axoneme
Molecular Function
What the gene product does at the molecular level
- protein binding
- calcium ion binding
- alpha-tubulin binding