YOD1 Deubiquitinase
YOD1 (OTU Deubiquitinase with Linear Linkage Specificity) - A key regulator of protein ubiquitination and cellular stress responses.
Gene Information Card
| Symbol | YOD1 |
|---|---|
| Full Name | YOD1 deubiquitinase |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 55432 ncbi.nlm.nih.gov/gene/55432 |
| Ensembl ID | ENSG00000143322 |
| UniProt ID | Q5VVQ6 |
| OMIM ID | 612024 |
| HGNC ID | 25031 |
| Aliases | OTUD2, PRO0907, HSPC140 |
Description
YOD1 (OTU domain-containing ubiquitin aldehyde-binding protein 2) encodes a deubiquitinating enzyme (DUB) that specifically cleaves linear (M1-linked) polyubiquitin chains. It plays a critical role in the regulation of NF-κB signaling, protein homeostasis, and cellular stress responses. YOD1 is involved in the unfolded protein response (UPR) and endoplasmic reticulum-associated degradation (ERAD).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | YOD1 overexpression may promote tumor growth by modulating NF-κB activity. | COSMIC; PMID: 25686126 |
| Colorectal cancer | Altered YOD1 expression linked to poor prognosis and chemoresistance. | COSMIC; PMID: 29395067 |
| Neurodegenerative disorders | YOD1 dysfunction impairs ERAD and contributes to protein aggregation. | UniProt; PMID: 21884936 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | High expression |
| HeLa | 7.1 | Moderate expression |
| MCF7 | 6.5 | Moderate expression |
| HepG2 | 5.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional impact |
| c.457G>A (p.Glu153Lys) | Missense | <0.01% | Potential loss of deubiquitinase activity |
| c.832_833insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated, non-functional YOD1 protein, impairing ERAD and NF-κB regulation.
Gain of Function (GOF)
Not well documented; some missense variants may enhance deubiquitinase activity but evidence is limited.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in YOD1.
View complete mutation data：
Gene Ontology (GO)
| • thiol-dependent deubiquitinase (GO:0004843) | • protein deubiquitination (GO:0016579) |
| • ubiquitin-dependent protein catabolic process (GO:0006511) | • ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) |
| • cytoplasm (GO:0005737) | • endoplasmic reticulum (GO:0005783) |
Pathways
• Unfolded Protein Response (UPR)
• ER-Associated Degradation (ERAD)
• NF-κB signaling pathway
• Ubiquitin-proteasome system
Protein Summary
YOD1 is a 347-amino acid deubiquitinase containing an OTU (ovarian tumor) domain. It specifically hydrolyzes linear (M1-linked) polyubiquitin chains, thereby regulating NF-κB activation and protein quality control at the endoplasmic reticulum. YOD1 interacts with components of the ERAD machinery and is essential for maintaining cellular proteostasis. Its dysregulation is implicated in cancer and neurodegenerative diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| YOD1 Knockout HEK293 Cell Line | EDJ-KQ17424 | Human | 55432 | Details Get a Quote |
| YOD1 Knockout A-549 Cell Line | EDJ-KQ49568 | Human | 55432 | Details Get a Quote |
| YOD1 Knockout HCT 116 Cell Line | EDJ-KQ49569 | Human | 55432 | Details Get a Quote |
| YOD1 Knockout HeLa Cell Line | EDJ-KQ49570 | Human | 55432 | Details Get a Quote |
