USP38
Ubiquitin Specific Peptidase 38
Gene Information Card
| Symbol | USP38 |
|---|---|
| Full Name | Ubiquitin Specific Peptidase 38 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q31.1 |
| NCBI Gene ID | 84140 ncbi.nlm.nih.gov/gene/84140 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | Q8N7H5 |
| OMIM ID | 618164 |
| HGNC ID | 20068 |
| Aliases | KIAA1191, DUB-38 |
Description
USP38 (Ubiquitin Specific Peptidase 38) is a protein-coding gene that encodes a deubiquitinating enzyme (DUB) belonging to the ubiquitin-specific protease (USP) family. The enzyme removes ubiquitin from target proteins, regulating protein stability, localization, and function. USP38 is involved in cellular processes such as DNA damage response, immune signaling, and autophagy. It is expressed in multiple tissues and has been implicated in cancer and inflammatory diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | USP38 overexpression promotes tumor growth by deubiquitinating and stabilizing oncoproteins | PMID: 31239362 |
| Colorectal cancer | USP38 loss-of-function mutations impair DNA repair, increasing genomic instability | PMID: 32025029 |
| Inflammatory bowel disease | USP38 regulates NF-κB signaling via deubiquitination of TRAF proteins | PMID: 29507755 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Lung | 6.1 | Low |
| Brain | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Liver cancer cell line |
| HEK293 | 9.7 | Embryonic kidney cells |
| A549 | 7.5 | Lung cancer cell line |
| HeLa | 5.3 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Ter) | Nonsense | <0.1% | Loss of function; truncation |
| c.1567G>A (p.Glu523Lys) | Missense | 0.2% | Unknown; predicted damaging |
| c.2045_2046insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing deubiquitinase activity.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Not reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004843 - thiol-dependent deubiquitinase | • GO:0006511 - ubiquitin-dependent protein catabolic process |
| • GO:0005634 - nucleus | • GO:0005737 - cytoplasm |
| • GO:0043161 - proteasome-mediated ubiquitin-dependent protein catabolic process |
Pathways
• Ubiquitin-proteasome system
• DNA damage response
• NF-kappaB signaling
Protein Summary
USP38 is a 1,045-amino acid deubiquitinating enzyme with a catalytic USP domain. It cleaves ubiquitin chains from substrate proteins, thereby regulating protein turnover and signaling. The protein localizes to both nucleus and cytoplasm and interacts with components of the DNA repair machinery. Structural studies reveal a conserved catalytic triad (Cys, His, Asp) essential for its enzymatic activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP38 Knockout HEK293 Cell Line | EDJ-KQ10144 | Human | 84640 | Details Get a Quote |
| USP38 Knockout HCT 116 Cell Line | EDJ-KQ36016 | Human | 84640 | Details Get a Quote |
| USP38 Knockout A-549 Cell Line | EDJ-KQ37243 | Human | 84640 | Details Get a Quote |
| USP38 Knockout HeLa Cell Line | EDJ-KQ37244 | Human | 84640 | Details Get a Quote |
| USP38 Knockout HAP1 Cell Line | EDC08003 | Human | 84640 | Details Get a Quote |
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