USP19 Gene
Ubiquitin Specific Peptidase 19
Gene Information Card
| Symbol | USP19 |
|---|---|
| Full Name | Ubiquitin Specific Peptidase 19 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 10869 ncbi.nlm.nih.gov/gene/10869 |
| Ensembl ID | ENSG00000172061 |
| UniProt ID | Q94966 |
| OMIM ID | 611338 |
| HGNC ID | 12617 |
| Aliases | KIAA0891, ZMYND9 |
Description
USP19 (Ubiquitin Specific Peptidase 19) is a protein-coding gene that encodes a deubiquitinating enzyme (DUB) belonging to the ubiquitin-specific protease (USP) family. The protein removes ubiquitin from target proteins, thereby regulating protein stability, localization, and function. USP19 is involved in various cellular processes including protein quality control, endoplasmic reticulum-associated degradation (ERAD), and immune signaling. It is widely expressed in multiple tissues and has been implicated in cancer, neurodegenerative diseases, and viral infections.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | USP19 overexpression may promote tumor growth by stabilizing oncogenic proteins via deubiquitination; associated with poor prognosis. | PMID: 25605274 |
| Colorectal cancer | USP19 upregulation correlates with increased cell proliferation and invasion; potential role in Wnt/β-catenin pathway modulation. | PMID: 29367642 |
| Neurodegenerative disorders | USP19 interacts with and deubiquitinates proteins involved in protein aggregation (e.g., TDP-43), potentially influencing disease progression. | PMID: 27545621 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Heart | 8.5 | Medium |
| Liver | 12.1 | Medium |
| Kidney | 9.8 | Medium |
| Lung | 7.3 | Low |
| Skeletal muscle | 6.1 | Low |
| Testis | 15.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 11.5 | Embryonic kidney cells; high expression |
| HeLa | 9.2 | Cervical cancer cells; moderate expression |
| HepG2 | 8.7 | Liver cancer cells; moderate expression |
| A549 | 6.4 | Lung cancer cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.567_569del (p.Lys189del) | In-frame deletion | <0.01% | Unknown; reported in COSMIC |
| c.2101G>A (p.Glu701Lys) | Missense | <0.01% | Unknown; ClinVar uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type deubiquitinase activity | • ubiquitin-specific protease activity |
| • protein deubiquitination | • proteasome-mediated ubiquitin-dependent protein catabolic process |
| • endoplasmic reticulum-associated ubiquitin-dependent protein catabolic process | • cytoplasm |
| • endoplasmic reticulum |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• Deubiquitination (Reactome: R-HSA-5688426)
Protein Summary
USP19 is a 1318-amino acid deubiquitinating enzyme with a catalytic domain characteristic of ubiquitin-specific proteases. It contains an N-terminal zinc finger domain and a C-terminal ubiquitin-like domain. The protein localizes to the cytoplasm and endoplasmic reticulum, where it removes ubiquitin from substrates to regulate their stability and function. USP19 is involved in ERAD, immune response modulation, and cellular stress responses. Its expression is altered in several cancers and neurodegenerative conditions, suggesting a role in disease pathogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP19 Knockout HEK293 Cell Line | EDJ-KQ7199 | Human | 10869 | Details Get a Quote |
| USP19 Knockout A-549 Cell Line | EDJ-KQ32141 | Human | 10869 | Details Get a Quote |
| USP19 Knockout HCT 116 Cell Line | EDJ-KQ32142 | Human | 10869 | Details Get a Quote |
| USP19 Knockout HeLa Cell Line | EDJ-KQ32143 | Human | 10869 | Details Get a Quote |
| USP19 Knockout HAP1 Cell Line | EDC08181 | Human | 10869 | Details Get a Quote |
