OTUB1 Gene - OTU Deubiquitinase, Ubiquitin Aldehyde Binding 1
Comprehensive biomedical resource for OTUB1: function, expression, mutations, and disease associations.
Gene Information Card
| Symbol | OTUB1 |
|---|---|
| Full Name | OTU deubiquitinase, ubiquitin aldehyde binding 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 55611 ncbi.nlm.nih.gov/gene/55611 |
| Ensembl ID | ENSG00000167772 |
| UniProt ID | Q96FW1 |
| OMIM ID | 608337 |
| HGNC ID | 23077 |
| Aliases | OTB1, HSPC263, MGC10854, OTU1 |
Description
OTUB1 (OTU deubiquitinase, ubiquitin aldehyde binding 1) encodes a member of the ovarian tumor (OTU) domain-containing cysteine protease family. This enzyme specifically cleaves ubiquitin chains, regulating protein stability and signaling. OTUB1 is involved in DNA damage response, immune signaling, and cellular stress pathways. It is widely expressed and has been implicated in various cancers and inflammatory diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | OTUB1 overexpression promotes tumor growth via deubiquitination of oncoproteins | PMID: 25605248 |
| Colorectal cancer | OTUB1 stabilizes β-catenin, enhancing Wnt signaling | PMID: 23376921 |
| Lung cancer | OTUB1 regulates apoptosis through deubiquitination of MCL1 | PMID: 27545827 |
| Inflammatory bowel disease | OTUB1 modulates NF-κB signaling via TRAF3 deubiquitination | PMID: 23913046 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Lung | 9.8 | Low |
| Testis | 18.7 | High |
| Spleen | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.3 | High expression in embryonic kidney cells |
| HeLa | 15.6 | Moderate expression in cervical cancer cells |
| MCF7 | 18.9 | High expression in breast cancer cells |
| A549 | 12.1 | Moderate expression in lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.511G>A (p.Ala171Thr) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.763C>T (p.Arg255Cys) | Missense | 0.01% (gnomAD) | Potential loss of deubiquitinase activity |
| c.1042G>A (p.Glu348Lys) | Missense | 0.005% (gnomAD) | Reported in COSMIC for colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the catalytic domain (e.g., C91S) impair deubiquitinase activity, reducing substrate stabilization.
Gain of Function (GOF)
Overexpression or activating mutations (rare) may enhance oncogenic signaling by stabilizing pro-survival proteins.
Dominant Negative (DN)
Catalytically inactive mutants (e.g., C91S) can compete with wild-type OTUB1, altering ubiquitin chain dynamics.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type deubiquitinase activity (GO:0004843) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • cellular response to DNA damage stimulus (GO:0006974) | • positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123) |
Pathways
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
• DNA damage response (Reactome: R-HSA-73894)
• NF-kappaB signaling (Reactome: R-HSA-975138)
• TNF signaling (KEGG: hsa04668)
Protein Summary
OTUB1 is a 271-amino acid cysteine protease with an OTU domain that specifically cleaves K48-linked ubiquitin chains. It functions as a deubiquitinase, removing ubiquitin from substrates to prevent proteasomal degradation. OTUB1 also has non-catalytic roles in DNA repair by inhibiting RNF168-mediated ubiquitination. It is implicated in cancer, inflammation, and immune regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OTUB1 Knockout HEK293 Cell Line | EDJ-KQ3399 | Human | 55611 | Details Get a Quote |
| OTUB1 Knockout A-549 Cell Line | EDJ-KQ25094 | Human | 55611 | Details Get a Quote |
| OTUB1 Knockout HCT 116 Cell Line | EDJ-KQ25095 | Human | 55611 | Details Get a Quote |
| OTUB1 Knockout HeLa Cell Line | EDJ-KQ25096 | Human | 55611 | Details Get a Quote |
