UCHL5
Ubiquitin C-Terminal Hydrolase L5
Gene Information Card
| Symbol | UCHL5 |
|---|---|
| Full Name | Ubiquitin C-Terminal Hydrolase L5 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 51377 ncbi.nlm.nih.gov/gene/51377 |
| Ensembl ID | ENSG00000116750 |
| UniProt ID | Q9Y5K5 |
| OMIM ID | 609683 |
| HGNC ID | 12518 |
| Aliases | UCH37, INO80R, CGI-70 |
Description
UCHL5 (ubiquitin C-terminal hydrolase L5) encodes a deubiquitinating enzyme that is a component of the 26S proteasome and the INO80 chromatin remodeling complex. It cleaves ubiquitin from polyubiquitinated proteins, thereby regulating protein degradation, DNA repair, and chromatin dynamics. UCHL5 is involved in cellular processes such as cell cycle control, apoptosis, and transcriptional regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of UCHL5 enhances deubiquitinase activity, promoting cell proliferation and resistance to apoptosis via stabilization of oncoproteins. | PMID: 25605274 |
| Colorectal cancer | UCHL5 upregulation correlates with poor prognosis; inhibition reduces tumor growth in xenograft models. | PMID: 26921324 |
| Neurodegenerative disorders | Dysregulation of UCHL5 may impair proteasomal degradation of aggregation-prone proteins, contributing to pathology. | PMID: 21804562 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Colon | 9.8 | Medium |
| Brain | 6.5 | Low |
| Kidney | 10.1 | Medium |
| Testis | 15.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.5 | Hepatocellular carcinoma cell line |
| HCT116 | 11.2 | Colorectal carcinoma cell line |
| SH-SY5Y | 7.8 | Neuroblastoma cell line |
| HEK293 | 9.0 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.548C>T (p.Pro183Leu) | Missense | <0.01% | Unknown functional impact; rare population variant |
| c.1019A>G (p.Asn340Ser) | Missense | <0.01% | Reported in COSMIC; potential loss of deubiquitinase activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the catalytic domain (e.g., C88A) impair deubiquitinase activity, leading to accumulation of ubiquitinated substrates.
Gain of Function (GOF)
Overexpression or activating mutations (not yet characterized in detail) may enhance deubiquitination of oncoproteins.
Dominant Negative (DN)
Catalytically inactive mutants can compete with wild-type UCHL5 for proteasome binding, reducing overall deubiquitinase activity.
View complete mutation data：
Gene Ontology (GO)
| • GO:0006511 (GO:0006511) | • GO:0008234 (GO:0008234) |
| • GO:0016579 (GO:0016579) | • GO:0036459 (GO:0036459) |
| • GO:0043161 (GO:0043161) |
Pathways
• Proteasome-mediated ubiquitin-dependent protein catabolic process
• INO80 chromatin remodeling
• DNA repair
Protein Summary
UCHL5 is a 37 kDa deubiquitinating enzyme that associates with the 26S proteasome via the RPN13 subunit. It removes ubiquitin chains from substrates, facilitating their degradation or recycling. Additionally, UCHL5 is part of the INO80 complex, where it regulates histone ubiquitination and chromatin accessibility. Its activity is essential for maintaining proteostasis and genomic stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UCHL5 Knockout HEK293 Cell Line | EDJ-KQ51314 | Human | 51377 | Details Get a Quote |
| UCHL5 Knockout HeLa Cell Line | EDJ-KQ56302 | Human | 51377 | Details Get a Quote |
| UCHL5 Knockout A-549 Cell Line | EDJ-KQ64791 | Human | 51377 | Details Get a Quote |
| UCHL5 Knockout HCT 116 Cell Line | EDJ-KQ73237 | Human | 51377 | Details Get a Quote |
