PGBD5 PiggyBac Transposable Element Derived 5
A domesticated transposase involved in genomic instability and neurodevelopmental disorders
Gene Information Card
| Symbol | PGBD5 |
|---|---|
| Full Name | PiggyBac Transposable Element Derived 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 79605 ncbi.nlm.nih.gov/gene/79605 |
| Ensembl ID | ENSG00000143190 |
| UniProt ID | Q96N21 |
| OMIM ID | 610472 |
| HGNC ID | 26028 |
| Aliases | dJ1009E23.1, FLJ30656 |
Description
PGBD5 is a human gene encoding a domesticated piggyBac transposase. It retains DNA-binding and endonuclease activities, capable of catalyzing DNA transposition and generating DNA double-strand breaks. PGBD5 is involved in genomic instability, neurodevelopment, and is recurrently mutated in certain cancers, particularly rhabdoid tumors and medulloblastoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rhabdoid tumors | PGBD5 fusions and rearrangements drive oncogenesis | PMID: 28263302 |
| Medulloblastoma | Recurrent PGBD5 structural variants contribute to tumorigenesis | PMID: 28263302 |
| Neurodevelopmental disorders | De novo PGBD5 mutations associated with intellectual disability and autism | PMID: 31036916 |
| Wilms tumor | PGBD5 rearrangements reported in a subset of cases | PMID: 28263302 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 3.2 | Low |
| Testis | 1.8 | Low |
| Ovary | 1.5 | Low |
| Lung | 1.2 | Low |
| Kidney | 1.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 2.5 | Low expression |
| HeLa | 1.9 | Low expression |
| K562 | 1.1 | Low expression |
| SH-SY5Y | 3.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function |
| c.1567G>A (p.Gly523Arg) | Missense | <0.1% | Unknown |
| c.789_790insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations predicted to truncate the protein, likely abolishing transposase activity.
Gain of Function (GOF)
Not described; PGBD5 fusions may create oncogenic chimeric proteins.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • DNA transposition (GO:0006313) |
| • nuclease activity (GO:0004519) | • nucleus (GO:0005634) |
Pathways
• Non-homologous end joining (NHEJ)
• DNA double-strand break repair
Protein Summary
PGBD5 is a 594-amino acid protein containing a DDE transposase domain. It binds DNA and introduces double-strand breaks, facilitating transposition. The protein is predominantly nuclear and expressed at low levels in various tissues. Its activity is implicated in genomic rearrangements in cancer and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PGBD5 Knockout HEK293 Cell Line | EDJ-KQ14737 | Human | 79605 | Details Get a Quote |
| PGBD5 Knockout HeLa Cell Line | EDJ-KQ57191 | Human | 79605 | Details Get a Quote |
| PGBD5 Knockout A-549 Cell Line | EDJ-KQ65702 | Human | 79605 | Details Get a Quote |
| PGBD5 Knockout HCT 116 Cell Line | EDJ-KQ74122 | Human | 79605 | Details Get a Quote |
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