USP48 (Ubiquitin Specific Peptidase 48) Gene
A deubiquitinating enzyme implicated in cancer and neurological disorders
Gene Information Card
| Symbol | USP48 |
|---|---|
| Full Name | Ubiquitin specific peptidase 48 |
| Gene Type | protein coding |
| Chromosomal Location | 1p36.12 |
| NCBI Gene ID | 84196 ncbi.nlm.nih.gov/gene/84196 |
| Ensembl ID | ENSG00000115486 |
| UniProt ID | Q86UV5 |
| OMIM ID | 618574 |
| HGNC ID | 18533 |
| Aliases | USP31, FLJ43889 |
Description
USP48 encodes a deubiquitinating enzyme that removes ubiquitin from specific protein substrates, thereby regulating protein stability and signaling pathways. It is involved in cellular processes such as DNA damage response, NF-kB signaling, and cell cycle control. Mutations and altered expression of USP48 have been linked to various cancers and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (e.g., breast, lung, colorectal) | USP48 mutations may lead to altered deubiquitinase activity, affecting oncogenic pathways (e.g., NF-kB, p53) and promoting tumorigenesis. | COSMIC, ClinVar |
| Neurological disorders (e.g., epilepsy, intellectual disability) | Rare USP48 variants have been reported in patients with neurodevelopmental phenotypes, suggesting a role in neuronal function. | ClinVar, OMIM |
| Inflammatory diseases | USP48 modulates NF-kB signaling, potentially influencing inflammatory responses. | UniProt, PubMed (via NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | High |
| Testis | Medium | Medium |
| Kidney | Medium | Medium |
| Liver | Low | Low |
| Lung | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Medium | Cervical cancer cell line |
| A549 | Low | Lung carcinoma |
| MCF7 | Medium | Breast cancer |
| HEK293 | Medium | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | Rare (0.01%) | Potential gain-of-function in NF-kB signaling |
| c.567C>T (p.Arg189Trp) | Missense | Rare (0.005%) | Unknown; possibly loss-of-function |
| c.890_891del (p.Glu297fs) | Frameshift | Very rare | Loss-of-function, likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Frameshift and truncating mutations that reduce USP48 catalytic activity, leading to impaired deubiquitination and altered substrate degradation.
Gain of Function (GOF)
Missense mutations that enhance USP48 activity, potentially increasing NF-kB signaling and promoting cell survival.
Dominant Negative (DN)
Some missense mutations may interfere with wild-type USP48 function, exerting a dominant-negative effect.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type deubiquitinase activity | • ubiquitin-specific protease activity |
| • protein deubiquitination | • proteasome-mediated ubiquitin-dependent protein catabolic process |
| • NF-kappaB signaling | • DNA damage response |
Pathways
• NF-kB signaling pathway
• p53 signaling pathway
• DNA damage response
• Ubiquitin-proteasome system
Protein Summary
USP48 is a 1035-amino acid protein with a catalytic domain typical of ubiquitin-specific proteases. It localizes to the nucleus and cytoplasm and interacts with various substrates, including histones and transcription factors. Its deubiquitinase activity is critical for regulating protein stability and signaling cascades. Structural studies reveal a conserved catalytic triad (Cys, His, Asp) essential for its enzymatic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP48 Knockout HEK293 Cell Line | EDJ-KQ3276 | Human | 84196 | Details Get a Quote |
| USP48 Knockout A-549 Cell Line | EDJ-KQ23438 | Human | 84196 | Details Get a Quote |
| USP48 Knockout HCT 116 Cell Line | EDJ-KQ24826 | Human | 84196 | Details Get a Quote |
| USP48 Knockout HeLa Cell Line | EDJ-KQ24827 | Human | 84196 | Details Get a Quote |
