EFHD1 Gene Summary [Human]
This gene encodes a member of the EF-hand super family of calcium binding proteins, which are involved in a variety of cellular processes including mitosis, synaptic transmission, and cytoskeletal rearrangement. The protein encoded by this gene is composed of an N-terminal disordered region, proline-rich elements, two EF-hands, and a C-terminal coiled-coil domain. This protein has been shown to associate with the mitochondrial inner membrane, and in HeLa cells, acts as a novel mitochondrial calcium ion sensor for mitochondrial flash activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
Details
| Type | Protein Coding |
| Official Symbol | EFHD1 |
| Official Name | EF-hand domain family member D1 [Source:HGNC Symbol;Acc:HGNC:29556] |
| Ensembl ID | ENSG00000115468 |
| Bio databases IDs | |
| Aliases | EF-hand domain family member D1, swiprosin-2 |
| Synonyms | 4931430I01RIK, EF hand domain containing 1, EF-hand domain family member D1, EF-hand domain family, member D1, mitocalcin, MST133, MSTP133, PP3051, RGD1559565, Swiprosin 2, SWS2 |
| 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 EFHD1 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
- EF hand
- EF-hand domain pair
- EF-hand, calcium binding motif, found in parvalbumin-like EF-hand family
- EFh
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- Mitochondria
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EFHD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuron projection development
- regulation of cellular hyperosmotic salinity response
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- calcium ion binding