USP31
Ubiquitin Specific Peptidase 31
Gene Information Card
| Symbol | USP31 |
|---|---|
| Full Name | Ubiquitin Specific Peptidase 31 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 57478 ncbi.nlm.nih.gov/gene/57478 |
| Ensembl ID | ENSG00000196498 |
| UniProt ID | Q70CQ4 |
| OMIM ID | 612245 |
| HGNC ID | 20060 |
| Aliases | NY-REN-60, FLJ32915 |
Description
USP31 (Ubiquitin Specific Peptidase 31) is a protein-coding gene that encodes a deubiquitinating enzyme (DUB) belonging to the ubiquitin-specific protease (USP) family. The enzyme removes ubiquitin from target proteins, thereby regulating protein stability, localization, and activity. USP31 is involved in cellular processes such as NF-kappa-B signaling and immune response modulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 6.5 | Medium |
| Spleen | 4.8 | Low |
| Lung | 3.2 | Low |
| Brain | 2.1 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 5.0 | Low |
| HeLa | 4.2 | Low |
| K562 | 3.8 | Low |
| A549 | 3.5 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Trp189*) are predicted to result in a truncated, non-functional protein.
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 | • NF-kappaB signaling |
| • cytoplasm |
Pathways
• Ubiquitin mediated proteolysis
• NF-kappa B signaling pathway
Protein Summary
The USP31 protein is a deubiquitinating enzyme that cleaves ubiquitin from target proteins. It contains a catalytic domain characteristic of ubiquitin-specific proteases. USP31 is implicated in the regulation of NF-kappa-B signaling and may play a role in immune responses. Its expression is highest in testis and spleen.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP31 Knockout HEK293 Cell Line | EDJ-KQ16078 | Human | 57478 | Details Get a Quote |
| USP31 Knockout A-549 Cell Line | EDJ-KQ47207 | Human | 57478 | Details Get a Quote |
| USP31 Knockout HCT 116 Cell Line | EDJ-KQ47208 | Human | 57478 | Details Get a Quote |
| USP31 Knockout HeLa Cell Line | EDJ-KQ47209 | Human | 57478 | Details Get a Quote |
| USP31 Knockout HAP1 Cell Line | EDC07989 | Human | 57478 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
