USP42 Gene - Ubiquitin Specific Peptidase 42
Comprehensive gene card for USP42, a deubiquitinating enzyme involved in cancer and cellular processes.
Gene Information Card
| Symbol | USP42 |
|---|---|
| Full Name | Ubiquitin Specific Peptidase 42 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p22.1 |
| NCBI Gene ID | 84132 ncbi.nlm.nih.gov/gene/84132 |
| Ensembl ID | ENSG00000106331 |
| UniProt ID | Q9H9J4 |
| OMIM ID | 612645 |
| HGNC ID | 20068 |
| Aliases | FLJ10727, USP42 |
Description
USP42 (Ubiquitin Specific Peptidase 42) is a protein-coding gene that encodes a deubiquitinating enzyme (DUB) belonging to the ubiquitin-specific protease family. This enzyme removes ubiquitin from target proteins, thereby regulating protein stability, localization, and activity. USP42 is involved in cellular processes such as DNA damage response, cell cycle control, and transcriptional regulation. Alterations in USP42 expression and mutations have been implicated in various cancers, including acute myeloid leukemia and solid tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia | USP42 rearrangements (e.g., fusions) may disrupt normal deubiquitination, contributing to leukemogenesis. | COSMIC, ClinVar |
| Prostate Cancer | Overexpression of USP42 may promote tumor growth by stabilizing oncogenic proteins. | NCBI Gene, COSMIC |
| Breast Cancer | USP42 mutations and altered expression observed in tumor samples; potential role in cell proliferation. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone Marrow | 8.3 | Low |
| Lymph Node | 6.1 | Low |
| Brain | 4.2 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney; high expression |
| K562 | 10.2 | Leukemia cell line; moderate expression |
| HeLa | 7.5 | Cervical cancer; low expression |
| MCF7 | 6.0 | Breast cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Likely loss of start codon; predicted loss of function |
| c.100C>T (p.Arg34Trp) | Missense | 0.2% | Unknown significance; may affect protein stability |
| c.500_501insA | Frameshift | <0.1% | Predicted loss of function via premature truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the catalytic domain are predicted to cause loss of deubiquitinase activity.
Gain of Function (GOF)
Not well characterized; some missense mutations may enhance activity or alter substrate specificity, but evidence is limited.
Dominant Negative (DN)
No known dominant-negative mutations reported for USP42.
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) |
| • zinc ion binding (GO:0008270) |
Pathways
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
• p53 signaling pathway (KEGG: hsa04115) - indirect regulation via deubiquitination of MDM2
Protein Summary
USP42 is a 1316-amino acid protein containing a catalytic USP domain and zinc finger motifs. It functions as a deubiquitinating enzyme, cleaving ubiquitin from target proteins to regulate their stability. USP42 is predominantly nuclear and is involved in DNA damage repair by deubiquitinating histone H2B and other substrates. Its dysregulation is linked to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP42 Knockout HEK293 Cell Line | EDJ-KQ2253 | Human | 84132 | Details Get a Quote |
| USP42 Knockout A-549 Cell Line | EDJ-KQ22565 | Human | 84132 | Details Get a Quote |
| USP42 Knockout HCT 116 Cell Line | EDJ-KQ22566 | Human | 84132 | Details Get a Quote |
| USP42 Knockout HeLa Cell Line | EDJ-KQ22567 | Human | 84132 | Details Get a Quote |
