OTUD5 Gene
OTU Deubiquitinase 5: A Key Regulator of Immune Signaling and Development
Gene Information Card
| Symbol | OTUD5 |
|---|---|
| Full Name | OTU deubiquitinase 5 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 55593 ncbi.nlm.nih.gov/gene/55593 |
| Ensembl ID | ENSG00000168314 |
| UniProt ID | Q96G74 |
| OMIM ID | 300713 |
| HGNC ID | 25401 |
| Aliases | DUBA, CGI-77, HSPC244 |
Description
OTUD5 (OTU deubiquitinase 5) encodes a cysteine protease that cleaves ubiquitin chains, regulating key signaling pathways including innate immunity, DNA repair, and embryonic development. It is essential for proper immune responses and neurodevelopment, with loss-of-function mutations linked to X-linked intellectual disability and multiple congenital anomalies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability with congenital anomalies | Loss-of-function mutations impair deubiquitinase activity, disrupting immune and developmental signaling | ClinVar, OMIM |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | Hemizygous missense variants reduce protein stability and catalytic function | ClinVar, OMIM |
| Primary immunodeficiency | Dysregulation of interferon signaling due to impaired OTUD5-mediated deubiquitination of TRAF3 | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.2 | Medium |
| Spleen | 7.9 | Medium |
| Brain (cortex) | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | High expression in embryonic kidney cells |
| HeLa | 7.5 | Moderate expression in cervical cancer cells |
| Jurkat | 9.8 | High expression in T-cell line |
| HepG2 | 5.2 | Low expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1054C>T (p.Arg352Trp) | Missense | Rare | Loss of deubiquitinase activity; associated with intellectual disability |
| c.1271G>A (p.Arg424Gln) | Missense | Rare | Impaired protein stability; linked to congenital anomalies |
| c.1522C>T (p.Arg508*) | Nonsense | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense variants that reduce or abolish deubiquitinase activity, leading to immune dysregulation and developmental defects.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type deubiquitinase activity | • ubiquitin-specific protease activity |
| • protein deubiquitination | • innate immune response |
| • negative regulation of type I interferon production | • DNA repair |
Pathways
• TRAF3-mediated IRF3 activation
• RIG-I/MDA5 signaling
• TLR signaling
Protein Summary
OTUD5 is a 571-amino acid protein containing an OTU (ovarian tumor) domain with deubiquitinase activity. It removes K63-linked ubiquitin chains from TRAF3, negatively regulating type I interferon production. The protein also participates in DNA damage response by deubiquitinating histone H2A and H2B. Mutations in OTUD5 cause a spectrum of X-linked disorders characterized by intellectual disability, seizures, and immune abnormalities.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OTUD5 Knockout HEK293 Cell Line | EDJ-KQ1990 | Human | 55593 | Details Get a Quote |
| OTUD5 Knockout A-549 Cell Line | EDJ-KQ21984 | Human | 55593 | Details Get a Quote |
| OTUD5 Knockout HCT 116 Cell Line | EDJ-KQ21985 | Human | 55593 | Details Get a Quote |
| OTUD5 Knockout HeLa Cell Line | EDJ-KQ21986 | Human | 55593 | Details Get a Quote |
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