OTUD7A
OTU Deubiquitinase 7A
Gene Information Card
| Symbol | OTUD7A |
|---|---|
| Full Name | OTU deubiquitinase 7A |
| Gene Type | protein-coding |
| Chromosomal Location | 15q13.3 |
| NCBI Gene ID | 161725 ncbi.nlm.nih.gov/gene/161725 |
| Ensembl ID | ENSG00000169919 |
| UniProt ID | Q6ZRI6 |
| OMIM ID | 612619 |
| HGNC ID | 26101 |
| Aliases | CEZANNE2, C15orf16, FLJ32709 |
Description
OTUD7A encodes a member of the ovarian tumor (OTU) domain-containing deubiquitinase family. The protein specifically cleaves K11-linked polyubiquitin chains and regulates ubiquitin-dependent signaling pathways. OTUD7A is highly expressed in the brain and plays a critical role in neuronal development, dendritic spine maturation, and synaptic function. Loss of OTUD7A is implicated in neurodevelopmental disorders, including epilepsy and intellectual disability, often associated with 15q13.3 microdeletion syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 15q13.3 microdeletion syndrome | Haploinsufficiency of OTUD7A contributes to neurodevelopmental phenotypes including epilepsy and intellectual disability | ClinVar, OMIM |
| Epilepsy | Loss of OTUD7A disrupts dendritic spine development and neuronal excitability | ClinVar, PubMed |
| Intellectual disability | Reduced OTUD7A expression impairs synaptic plasticity and cognitive function | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Cerebral cortex | 32.1 | High |
| Cerebellum | 25.8 | High |
| Testis | 12.3 | Medium |
| Heart | 8.7 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 45.2 | Neuroblastoma cell line |
| HEK293 | 22.8 | Embryonic kidney cells |
| HeLa | 15.6 | Cervical carcinoma cells |
| U87MG | 30.4 | Glioblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | rare | Loss of start codon, likely loss of function |
| c.235C>T (p.Arg79*) | nonsense | rare | Premature truncation, loss of function |
| c.1024_1025del (p.Leu342fs) | frameshift | rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported OTUD7A mutations are loss-of-function, leading to haploinsufficiency in 15q13.3 microdeletion syndrome.
Gain of Function (GOF)
No gain-of-function mutations have been reported for OTUD7A.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for OTUD7A.
View complete mutation data：
Gene Ontology (GO)
| • K11-linked ubiquitin-specific protease activity | • deubiquitinase activity |
| • protein deubiquitination | • ubiquitin-dependent protein catabolic process |
| • nervous system development | • dendritic spine development |
| • synaptic signaling |
Pathways
• Ubiquitin-proteasome system
• Deubiquitination
• Neurodevelopment
Protein Summary
OTUD7A is a 956-amino acid deubiquitinase with an N-terminal OTU domain that specifically cleaves K11-linked polyubiquitin chains. It is predominantly expressed in the brain and localizes to the cytoplasm and nucleus. The protein regulates protein stability and signaling pathways critical for neuronal morphogenesis, including dendritic spine formation and synaptic transmission. Loss of OTUD7A function contributes to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OTUD7A Knockout HEK293 Cell Line | EDJ-KQ12200 | Human | 161725 | Details Get a Quote |
| OTUD7A Knockout HeLa Cell Line | EDJ-KQ58831 | Human | 161725 | Details Get a Quote |
| OTUD7A Knockout A-549 Cell Line | EDJ-KQ67317 | Human | 161725 | Details Get a Quote |
| OTUD7A Knockout HCT 116 Cell Line | EDJ-KQ75715 | Human | 161725 | Details Get a Quote |
