PEF1 Gene Summary [Human]
This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and may modulate its function in Ca(2+) signaling. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 1.[provided by RefSeq, May 2010]
Details
| Type | Protein Coding |
| Official Symbol | PEF1 |
| Official Name | penta-EF-hand domain containing 1 [Source:HGNC Symbol;Acc:HGNC:30009] |
| Ensembl ID | ENSG00000162517 |
| Bio databases IDs | |
| Aliases | penta-EF-hand domain containing 1, peflin |
| Synonyms | 2600002E23RIK, ABP32, PEF1A, Peflin, penta-EF-hand domain containing 1 |
| 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 PEF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein dimerization
- calcium-dependent protein binding
- EF-hand, calcium binding motif
- EF-hand domain pair
- protein binding activity, bridging
- calcium ion binding
- EFh
- protein binding
- identical protein binding
- EF hand like domain
- EFh_PI-PLC
- The penta-EF hand (PEF) family
- EF-hand domain
- EF hand
- protein heterodimerization
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
- soluble fraction
- cellular membrane
- Nucleus
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PEF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ER to Golgi vesicle-mediated transport
- neural crest cell development
- response to calcium ion
- neural crest formation
- COPII vesicle coating
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- endoplasmic reticulum
- Cul3-RING ubiquitin ligase complex
- COPII vesicle coat
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- RNA binding
- protein heterodimerization activity
- calcium ion binding
- calcium-dependent protein binding
- protein dimerization activity