OTUD6B
OTU Domain-Containing Ubiquitin Aldehyde-Binding Protein 6B
Gene Information Card
| Symbol | OTUD6B |
|---|---|
| Full Name | OTU domain containing 6B |
| Gene Type | Protein coding |
| Chromosomal Location | 8q21.3 |
| NCBI Gene ID | 51633 ncbi.nlm.nih.gov/gene/51633 |
| Ensembl ID | ENSG00000104714 |
| UniProt ID | Q8N6M0 |
| OMIM ID | 612021 |
| HGNC ID | 24281 |
| Aliases | DUBA-5, FLJ10858, CGI-77 |
Description
OTUD6B is a member of the OTU (ovarian tumor) domain-containing deubiquitinase family. It functions as a deubiquitinating enzyme that removes ubiquitin from specific substrates, thereby regulating protein stability and cellular signaling. OTUD6B is involved in the ubiquitin-proteasome system and has been implicated in neurodevelopment, with biallelic loss-of-function mutations causing a syndromic form of intellectual disability with seizures and dysmorphic features.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal recessive 55 (MRT55) | Biallelic loss-of-function mutations in OTUD6B impair deubiquitinase activity, leading to dysregulation of ubiquitin-dependent pathways critical for neuronal development and function. | OMIM #617452 |
| Seizures (associated with MRT55) | Same mechanism as above; disruption of OTUD6B function contributes to neuronal hyperexcitability. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 9.8 | Medium |
| Testis | 7.2 | Medium |
| Kidney | 6.1 | Low |
| Liver | 4.5 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.3 | Embryonic kidney cells |
| SH-SY5Y | 10.1 | Neuroblastoma cells |
| HeLa | 8.7 | Cervical cancer cells |
| K562 | 6.4 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
| c.143C>T (p.Pro48Leu) | Missense | Rare | Likely loss of function |
| c.307C>T (p.Arg103*) | Nonsense | Rare | Loss of function |
| c.421_422del (p.Glu141fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations in OTUD6B cause autosomal recessive intellectual disability with seizures (MRT55).
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type deubiquitinase activity | • ubiquitin-specific protease activity |
| • protein deubiquitination | • proteasome-mediated ubiquitin-dependent protein catabolic process |
| • nucleus | • cytoplasm |
Pathways
• Ubiquitin-proteasome system
• Deubiquitination
Protein Summary
OTUD6B is a 299-amino acid deubiquitinating enzyme containing an OTU domain. It cleaves ubiquitin chains from target proteins, regulating their stability and function. The protein is localized to both the nucleus and cytoplasm and is expressed in multiple tissues, with highest levels in brain and testis. Loss of OTUD6B function leads to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OTUD6B Knockout HEK293 Cell Line | EDJ-KQ11166 | Human | 51633 | Details Get a Quote |
| OTUD6B Knockout A-549 Cell Line | EDJ-KQ39186 | Human | 51633 | Details Get a Quote |
| OTUD6B Knockout HCT 116 Cell Line | EDJ-KQ39187 | Human | 51633 | Details Get a Quote |
| OTUD6B Knockout HeLa Cell Line | EDJ-KQ39188 | Human | 51633 | Details Get a Quote |
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