USP53 Gene: Ubiquitin Specific Peptidase 53
A comprehensive biomedical resource on USP53, including gene information, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | USP53 |
|---|---|
| Full Name | Ubiquitin Specific Peptidase 53 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q26 |
| NCBI Gene ID | 54532 ncbi.nlm.nih.gov/gene/54532 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | Q70EK8 |
| OMIM ID | 611072 |
| HGNC ID | 29285 |
| Aliases | FLJ22531, MGC138207, MGC138209 |
Description
USP53 (Ubiquitin Specific Peptidase 53) is a protein-coding gene that encodes a member of the ubiquitin-specific protease (USP) family of deubiquitinating enzymes. The protein contains a catalytic domain characteristic of USPs and is involved in protein deubiquitination, which regulates various cellular processes including protein stability, signaling, and trafficking. USP53 is associated with autosomal recessive non-syndromic hearing loss and progressive familial intrahepatic cholestasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Progressive Familial Intrahepatic Cholestasis (PFIC) | Loss-of-function mutations in USP53 disrupt bile acid homeostasis, leading to cholestasis and liver injury. | ClinVar, OMIM |
| Non-Syndromic Hearing Loss, Autosomal Recessive (DFNB) | Mutations in USP53 cause sensorineural hearing loss, likely due to impaired deubiquitination in cochlear hair cells. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 5.2 | Low |
| Kidney | 3.8 | Low |
| Testis | 2.1 | Low |
| Brain | 1.5 | Not detected |
| Heart | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 4.5 | Hepatocellular carcinoma cell line |
| HEK 293 (embryonic kidney) | 3.2 | Transformed cell line |
| K562 (leukemia) | 1.0 | Myelogenous leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.950G>A (p.Arg317Gln) | Missense | Rare | Likely pathogenic; associated with PFIC |
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss-of-function; associated with hearing loss |
| c.1666_1667del (p.Leu556Glufs*3) | Frameshift | Rare | Loss-of-function; associated with PFIC |
Mutation functional classification
Loss of Function (LOF)
Most reported USP53 mutations are loss-of-function, leading to reduced deubiquitinase activity and accumulation of ubiquitinated substrates.
Gain of Function (GOF)
No gain-of-function mutations have been reported for USP53.
Dominant Negative (DN)
No dominant-negative mutations have been described for USP53.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type deubiquitinase activity (GO:0004843) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • cytoplasm (GO:0005737) | • nucleus (GO:0005634) |
Pathways
• Ubiquitin-proteasome pathway
• Deubiquitination
Protein Summary
USP53 is a 1,098-amino acid protein belonging to the ubiquitin-specific protease family. It contains a catalytic domain with conserved cysteine, histidine, and aspartate residues essential for deubiquitinase activity. The protein is localized in the cytoplasm and nucleus and is involved in removing ubiquitin from target proteins, thereby regulating their stability and function. USP53 is expressed at low levels in liver, kidney, and testis, and its dysfunction is linked to cholestatic liver disease and hearing loss.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP53 Knockout HEK293 Cell Line | EDJ-KQ1051 | Human | 54532 | Details Get a Quote |
| USP53 Knockout HCT 116 Cell Line | EDJ-KQ20166 | Human | 54532 | Details Get a Quote |
| USP53 Knockout HeLa Cell Line | EDJ-KQ18334 | Human | 54532 | Details Get a Quote |
| USP53 Knockout A-549 Cell Line | EDJ-KQ18821 | Human | 54532 | Details Get a Quote |
