OTUD6A Gene
OTU Deubiquitinase 6A
Gene Information Card
| Symbol | OTUD6A |
|---|---|
| Full Name | OTU deubiquitinase 6A |
| Gene Type | protein-coding |
| Chromosomal Location | Xp11.23 |
| NCBI Gene ID | 139562 ncbi.nlm.nih.gov/gene/139562 |
| Ensembl ID | ENSG00000147180 |
| UniProt ID | Q7Z6J0 |
| OMIM ID | 300849 |
| HGNC ID | 25142 |
| Aliases | DUBA5, FLJ14668, MGC138499 |
Description
OTUD6A is a member of the OTU (ovarian tumor) domain-containing deubiquitinase family. It functions as a cysteine protease that removes ubiquitin from specific substrates, thereby regulating protein stability, signaling pathways, and cellular processes such as cell cycle progression and apoptosis. OTUD6A is predominantly expressed in testis and brain, and its dysregulation has been implicated in cancer and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | OTUD6A overexpression promotes cell proliferation and invasion via deubiquitination of oncogenic substrates | PMID: 32015537 |
| Prostate cancer | OTUD6A upregulation correlates with poor prognosis and enhances androgen receptor signaling | PMID: 32697970 |
| Intellectual disability | Loss-of-function variants in OTUD6A are associated with X-linked intellectual disability | PMID: 27569545 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 3.1 | Not detected |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 9.8 | Moderate expression |
| MCF7 | 6.5 | Low expression |
| A549 | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely loss of function |
| c.502C>T (p.Arg168Trp) | missense | <0.01% | Impaired deubiquitinase activity |
| c.1003_1004del (p.Glu335fs) | frameshift | <0.01% | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the catalytic OTU domain or disrupt start codon lead to loss of 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)
| • cysteine-type deubiquitinase activity | • ubiquitin-specific protease activity |
| • protein deubiquitination | • cell cycle |
| • apoptotic process | • nucleus |
| • cytoplasm |
Pathways
• Ubiquitin-proteasome system
• Deubiquitination
Protein Summary
OTUD6A is a 481-amino acid protein containing an N-terminal OTU domain responsible for its deubiquitinase activity. It cleaves ubiquitin chains from target proteins, thereby regulating their stability and function. The protein is localized in both the nucleus and cytoplasm and is involved in cell cycle control and apoptosis. Structural studies reveal a conserved catalytic triad (Cys, His, Asp) essential for activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OTUD6A Knockout HEK293 Cell Line | EDJ-KQ1918 | Human | 139562 | Details Get a Quote |
| OTUD6A Knockout HeLa Cell Line | EDJ-KQ58415 | Human | 139562 | Details Get a Quote |
| OTUD6A Knockout A-549 Cell Line | EDJ-KQ66904 | Human | 139562 | Details Get a Quote |
| OTUD6A Knockout HCT 116 Cell Line | EDJ-KQ75307 | Human | 139562 | Details Get a Quote |
