USP12: Ubiquitin Specific Peptidase 12
A deubiquitinating enzyme involved in protein stability and cellular signaling
Gene Information Card
| Symbol | USP12 |
|---|---|
| Full Name | Ubiquitin Specific Peptidase 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q12.13 |
| NCBI Gene ID | 219333 ncbi.nlm.nih.gov/gene/219333 |
| Ensembl ID | ENSG00000133226 |
| UniProt ID | O75317 |
| OMIM ID | 612663 |
| HGNC ID | 12619 |
| Aliases | UBH1, USP12L1 |
Description
USP12 (Ubiquitin Specific Peptidase 12) is a protein-coding gene that encodes a deubiquitinating enzyme (DUB) belonging to the ubiquitin-specific protease family. The enzyme removes ubiquitin from specific protein substrates, thereby regulating protein stability, localization, and function. USP12 is involved in cellular processes such as cell cycle progression, DNA damage response, and signal transduction. It interacts with cofactors like UAF1 and WDR20 to enhance its catalytic activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | USP12 overexpression may promote tumor growth by stabilizing oncogenic proteins; limited direct evidence | COSMIC, literature |
| Hepatocellular carcinoma | USP12 upregulation associated with poor prognosis; potential role in deubiquitinating β-catenin | COSMIC, literature |
| Neurodevelopmental disorders | Rare USP12 variants identified in patients with intellectual disability; functional impact unclear | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Liver | 6.1 | Low |
| Kidney | 5.8 | Low |
| Heart | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cell line |
| HeLa | 8.7 | Cervical cancer cell line |
| HepG2 | 7.4 | Hepatocellular carcinoma cell line |
| K562 | 6.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96His) | Missense | <0.01% | Unknown; likely benign |
| c.514C>T (p.Arg172Trp) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
| c.832_833insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of deubiquitinase activity, potentially impairing protein degradation pathways.
Gain of Function (GOF)
Not well characterized; some missense variants may alter substrate specificity or activity.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • thiol-dependent deubiquitinase (GO:0004843) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • nucleus (GO:0005634) | • cytosol (GO:0005829) |
| • protein deubiquitination (GO:0016579) |
Pathways
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
• Deubiquitination (Reactome: R-HSA-5688426)
Protein Summary
USP12 encodes a 370-amino acid deubiquitinating enzyme with a conserved catalytic domain. It removes ubiquitin from target proteins, regulating their stability and activity. USP12 requires interaction with UAF1 and WDR20 for full catalytic function. It is implicated in cell cycle control, DNA repair, and cancer progression. Protein expression is detected in multiple tissues, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP12 Knockout HEK293 Cell Line | EDJ-KQ8183 | Human | 219333 | Details Get a Quote |
| USP12 Knockout A-549 Cell Line | EDJ-KQ34098 | Human | 219333 | Details Get a Quote |
| USP12 Knockout HCT 116 Cell Line | EDJ-KQ34099 | Human | 219333 | Details Get a Quote |
| USP12 Knockout HeLa Cell Line | EDJ-KQ34100 | Human | 219333 | Details Get a Quote |
| DUSP12 Knockout HEK293T Cell Line | EDJ-KQ78136 | Human | 11266 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
