OTUD1 (OTU Deubiquitinase 1)
A deubiquitinating enzyme involved in immune regulation, cancer, and cellular stress responses.
Gene Information Card
| Symbol | OTUD1 |
|---|---|
| Full Name | OTU deubiquitinase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p12.31 |
| NCBI Gene ID | 220213 ncbi.nlm.nih.gov/gene/220213 |
| Ensembl ID | ENSG00000165806 |
| UniProt ID | Q5VVQ6 |
| OMIM ID | 617057 |
| HGNC ID | 28731 |
| Aliases | DUBA7, OTU1 |
Description
OTUD1 (OTU deubiquitinase 1) encodes a member of the ovarian tumor (OTU) family of cysteine proteases. The protein functions as a deubiquitinating enzyme (DUB) that removes ubiquitin chains from specific substrates, thereby regulating diverse cellular processes including immune signaling, DNA damage response, and tumor suppression. OTUD1 is known to negatively regulate the NF-κB pathway by deubiquitinating TRAF3 and TRAF6, and to stabilize p53 by deubiquitinating USP7. It also modulates TGF-β signaling and interferon responses. Altered expression of OTUD1 has been implicated in several cancers and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | OTUD1 downregulation correlates with poor prognosis; loss promotes NF-κB activation and tumor growth. | PMID: 32034146 |
| Breast cancer | OTUD1 suppresses metastasis by deubiquitinating and stabilizing p53. | PMID: 31073079 |
| Colorectal cancer | Reduced OTUD1 expression associated with increased Wnt/β-catenin signaling and tumor progression. | PMID: 31570791 |
| Gastric cancer | OTUD1 acts as a tumor suppressor by inhibiting NF-κB and promoting apoptosis. | PMID: 32561758 |
| Inflammatory bowel disease | OTUD1 deficiency exacerbates colitis via enhanced NF-κB signaling. | PMID: 32034146 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in embryonic kidney cells |
| HeLa | 9.8 | Moderate expression in cervical cancer cells |
| HepG2 | 6.5 | Low expression in liver cancer cells |
| MCF7 | 4.1 | Low expression in breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | <0.01% | Loss of function; truncation of catalytic domain |
| c.763G>A (p.Gly255Arg) | Missense | <0.01% | Unknown functional effect; rare variant |
| c.1246_1247insA (p.Thr416Asnfs*5) | Frameshift | <0.01% | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the OTU domain abolish deubiquitinase activity, leading to impaired NF-κB regulation and reduced tumor suppression.
Gain of Function (GOF)
No gain-of-function mutations have been reported in OTUD1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for OTUD1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004843 - cysteine-type deubiquitinase activity | • GO:0006511 - ubiquitin-dependent protein catabolic process |
| • GO:0007250 - activation of NF-κB-inducing kinase activity | • GO:0032088 - negative regulation of NF-κB transcription factor activity |
| • GO:0043123 - positive regulation of I-kappaB kinase/NF-κB signaling | • GO:0070534 - protein K63-linked deubiquitination |
Pathways
• NF-κB signaling pathway (Reactome: R-HSA-975909)
• p53 signaling pathway (Reactome: R-HSA-5633007)
• TGF-β signaling pathway (Reactome: R-HSA-170834)
• Innate immune system (Reactome: R-HSA-168249)
Protein Summary
OTUD1 is a 571-amino acid cysteine protease containing an N-terminal OTU domain responsible for deubiquitinase activity. It preferentially cleaves K63-linked polyubiquitin chains from substrates such as TRAF3, TRAF6, and USP7. The protein localizes to the cytoplasm and nucleus. OTUD1 plays a critical role in dampening inflammatory signaling by negatively regulating NF-κB, and it promotes genomic stability by stabilizing p53. Its expression is frequently downregulated in cancers, where it functions as a tumor suppressor.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OTUD1 Knockout HEK293 Cell Line | EDJ-KQ8543 | Human | 220213 | Details Get a Quote |
| OTUD1 Knockout A-549 Cell Line | EDJ-KQ34688 | Human | 220213 | Details Get a Quote |
| OTUD1 Knockout HCT 116 Cell Line | EDJ-KQ34689 | Human | 220213 | Details Get a Quote |
| OTUD1 Knockout HeLa Cell Line | EDJ-KQ34690 | Human | 220213 | Details Get a Quote |
| OTUD1 Knockout HAP1 Cell Line | EDC08210 | Human | 220213 | Details Get a Quote |
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