PEF1 (Penta-EF-Hand Domain Containing 1)
Calcium-binding protein involved in apoptosis and cell cycle regulation
Gene Information Card
| Symbol | PEF1 |
|---|---|
| Full Name | Penta-EF-Hand Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p32.3 |
| NCBI Gene ID | 553115 ncbi.nlm.nih.gov/gene/553115 |
| Ensembl ID | ENSG00000162572 |
| UniProt ID | Q9UBV8 |
| OMIM ID | 610033 |
| HGNC ID | 30021 |
| Aliases | PEF, ALP-1, ALP1 |
Description
PEF1 encodes a member of the penta-EF-hand (PEF) family of calcium-binding proteins. The protein contains five EF-hand motifs and is involved in calcium-dependent signaling, apoptosis, and cell cycle regulation. It interacts with other PEF family members and may play a role in cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression and potential role in apoptosis regulation | COSMIC, literature |
| Colorectal cancer | Mutations and expression changes observed | COSMIC, literature |
| Lung cancer | Overexpression linked to poor prognosis | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.7 | Low |
| Kidney | 9.1 | Low |
| Testis | 15.2 | Medium |
| Lung | 11.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | Moderate expression |
| HeLa | 10.2 | Low expression |
| MCF7 | 18.3 | High expression |
| A549 | 12.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | 0.01% | Unknown functional impact |
| c.412C>T (p.Arg138Trp) | Missense | 0.005% | Potential loss of calcium binding |
| c.523_524insA | Frameshift | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.523_524insA) likely lead to truncated protein and loss of calcium-binding function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • cytoplasm (GO:0005737) |
| • apoptotic process (GO:0006915) | • metal ion binding (GO:0046872) |
Pathways
• Calcium signaling pathway
• Apoptosis
Protein Summary
PEF1 is a 248-amino acid protein with five EF-hand calcium-binding domains. It localizes to the cytoplasm and is involved in calcium-dependent processes including apoptosis and cell cycle control. The protein interacts with other PEF family members such as ALG-2 and may modulate cell death signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PEF1 Knockout HEK293 Cell Line | EDJ-KQ12109 | Human | 553115 | Details Get a Quote |
| PEF1 Knockout A-549 Cell Line | EDJ-KQ40783 | Human | 553115 | Details Get a Quote |
| PEF1 Knockout HCT 116 Cell Line | EDJ-KQ40784 | Human | 553115 | Details Get a Quote |
| PEF1 Knockout HeLa Cell Line | EDJ-KQ40785 | Human | 553115 | Details Get a Quote |
