PDF (Peptide Deformylase, Mitochondrial)
A mitochondrial enzyme involved in protein maturation and potential cancer target.
Gene Information Card
| Symbol | |
|---|---|
| Full Name | Peptide Deformylase (Mitochondrial) |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 64146 ncbi.nlm.nih.gov/gene/64146 |
| Ensembl ID | ENSG00000103168 |
| UniProt ID | Q9HBH1 |
| OMIM ID | 608512 |
| HGNC ID | 30046 |
| Aliases | DEF1, HsPDF, PDF1A, MGC117188 |
Description
The PDF gene encodes a mitochondrial peptide deformylase that catalyzes the removal of the N-formyl group from nascent mitochondrial-encoded proteins, a critical step in mitochondrial protein maturation. This enzyme is essential for mitochondrial function and has been implicated in cancer cell proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression of PDF supports mitochondrial protein synthesis and cell growth; inhibition reduces proliferation. | COSMIC, PubMed |
| Mitochondrial disorders (potential) | Loss-of-function variants may impair mitochondrial translation and energy production. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Heart | 8.7 | Medium |
| Liver | 6.5 | Low |
| Brain | 4.2 | Low |
| Kidney | 7.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| HEK293 | 11.8 | Medium expression |
| K562 | 9.4 | Medium expression |
| MCF7 | 13.5 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; uncertain significance |
| c.208G>A (p.Gly70Arg) | Missense | <0.01% | Unknown effect; rare variant |
| c.364C>T (p.Arg122Trp) | Missense | <0.01% | Unknown effect; rare variant |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may reduce deformylase activity, impairing mitochondrial translation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • zinc ion binding (GO:0008270) |
| • peptide deformylase activity (GO:0042586) | • regulation of translational fidelity (GO:0006450) |
| • methylation (GO:0032259) |
Pathways
• Mitochondrial protein processing (Reactome: R-HSA-5389840)
• Organelle biogenesis and maintenance
Protein Summary
Peptide deformylase (PDF) is a mitochondrial metalloprotease that removes the N-formyl group from methionine of nascent mitochondrial polypeptides. It is essential for proper mitochondrial protein function and has been studied as a potential anticancer target due to its role in mitochondrial translation and cell proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDF Knockout HEK293 Cell Line | EDJ-KQ51615 | Human | 64146 | Details Get a Quote |
| PDF Knockout HeLa Cell Line | EDJ-KQ57037 | Human | 64146 | Details Get a Quote |
| PDF Knockout A-549 Cell Line | EDJ-KQ65543 | Human | 64146 | Details Get a Quote |
| PDF Knockout HCT 116 Cell Line | EDJ-KQ73975 | Human | 64146 | Details Get a Quote |
