USP29 Gene: Ubiquitin Specific Peptidase 29
A deubiquitinating enzyme involved in p53 regulation and cellular stress response
Gene Information Card
| Symbol | USP29 |
|---|---|
| Full Name | Ubiquitin Specific Peptidase 29 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.43 |
| NCBI Gene ID | 57663 ncbi.nlm.nih.gov/gene/57663 |
| Ensembl ID | ENSG00000160199 |
| UniProt ID | Q9HBJ7 |
| OMIM ID | 616158 |
| HGNC ID | 12619 |
| Aliases | UBP29, deubiquitinating enzyme 29 |
Description
USP29 (Ubiquitin Specific Peptidase 29) is a deubiquitinating enzyme that removes ubiquitin from specific protein substrates, thereby regulating protein stability and function. It is known to deubiquitinate and stabilize p53, a critical tumor suppressor, and is involved in cellular responses to stress, DNA damage, and apoptosis. USP29 is located on chromosome 19q13.43 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | USP29 deubiquitinates and stabilizes p53, potentially affecting tumor suppression; dysregulation may contribute to oncogenesis | PMID: 20075857 |
| Neuroblastoma | USP29 amplification and overexpression observed in neuroblastoma cell lines; may influence p53 pathway | PMID: 20075857 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.1 | Low |
| Lung | 6.5 | Low |
| Liver | 4.2 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | Moderate expression |
| HeLa | 7.8 | Low expression |
| SH-SY5Y | 15.2 | High expression (neuroblastoma) |
| MCF7 | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown effect on protein function |
| c.100C>T | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations have been reported in USP29.
Dominant Negative (DN)
No dominant-negative mutations have been described for USP29.
View complete mutation data：
Gene Ontology (GO)
| • thiol-dependent deubiquitinase (GO:0004843) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • thiol-dependent ubiquitinyl hydrolase activity (GO:0036459) |
Pathways
• p53 signaling pathway (Reactome: R-HSA-3700989)
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
Protein Summary
USP29 is a 922-amino acid deubiquitinating enzyme belonging to the ubiquitin-specific protease (USP) family. It contains a catalytic domain with a conserved cysteine residue essential for its hydrolase activity. USP29 interacts with and deubiquitinates p53, leading to p53 stabilization and activation of downstream apoptotic pathways. The protein is predominantly nuclear but also found in the cytoplasm. Its expression is regulated in a tissue-specific manner, with highest levels in testis and certain cancer cell lines.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP29 Knockout HEK293 Cell Line | EDJ-KQ16077 | Human | 57663 | Details Get a Quote |
| USP29 Knockout HeLa Cell Line | EDJ-KQ56895 | Human | 57663 | Details Get a Quote |
| USP29 Knockout A-549 Cell Line | EDJ-KQ65407 | Human | 57663 | Details Get a Quote |
| USP29 Knockout HCT 116 Cell Line | EDJ-KQ73844 | Human | 57663 | Details Get a Quote |
