USP53 Chromosome 4
Ubiquitin specific peptidase 53
Upload your DNA to see your personal genotypes for variants in USP53.
What This Gene Does
Enables K63-linked deubiquitinase activity. Predicted to be involved in response to auditory stimulus and sensory perception of sound. Predicted to act upstream of or within action potential; epithelial cell apoptotic process; and outer hair cell apoptotic process. Located in bicellular tight junction. Implicated in progressive familial intrahepatic cholestasis. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Ubiquitin specific peptidases
Locus Type
gene with protein product
Location
4q26
Ensembl
ENSG00000145390
Associated Conditions (8)
Inborn genetic diseases
USP53-related disorder
Cholestasis
progressive familial intrahepatic
7
with or without hearing loss
(PFIC4-like)
See cases
Key Variants
RS112315516
Conflicting classifications of pathogenicity
Inborn genetic diseases, USP53-related disorder, Inborn genetic diseases
Health Risk
RS189360551
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS190903270
Conflicting classifications of pathogenicity
Inborn genetic diseases, USP53-related disorder, Inborn genetic diseases
Health Risk
RS200674564
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS61730004
Conflicting classifications of pathogenicity
Cholestasis, progressive familial intrahepatic, 7
Health Risk
RS61730005
Conflicting classifications of pathogenicity
Cholestasis, progressive familial intrahepatic, 7
Health Risk
RS1288933417
Likely pathogenic
Cholestasis, progressive familial intrahepatic, 7
Health Risk
RS1317656688
Likely pathogenic
Cholestasis, Cholestasis
Health Risk
RS1578490102
Likely pathogenic
Cholestasis, Cholestasis
Health Risk
RS1748101805
Likely pathogenic
Cholestasis, progressive familial intrahepatic, 7
Health Risk
RS1748106152
Likely pathogenic
Cholestasis, progressive familial intrahepatic, 7
Health Risk
RS1751264238
Likely pathogenic
Cholestasis, progressive familial intrahepatic, 7
Health Risk
All Variants (40)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112315516 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, USP53-related disorder, Inborn genetic diseases |
| RS189360551 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS190903270 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, USP53-related disorder, Inborn genetic diseases |
| RS200674564 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS61730004 | Health Risk | Conflicting classifications of pathogenicity | Cholestasis, progressive familial intrahepatic, 7 |
| RS61730005 | Health Risk | Conflicting classifications of pathogenicity | Cholestasis, progressive familial intrahepatic, 7 |
| RS1288933417 | Health Risk | Likely pathogenic | Cholestasis, progressive familial intrahepatic, 7 |
| RS1317656688 | Health Risk | Likely pathogenic | Cholestasis, Cholestasis |
| RS1578490102 | Health Risk | Likely pathogenic | Cholestasis, Cholestasis |
| RS1748101805 | Health Risk | Likely pathogenic | Cholestasis, progressive familial intrahepatic, 7 |
| RS1748106152 | Health Risk | Likely pathogenic | Cholestasis, progressive familial intrahepatic, 7 |
| RS1751264238 | Health Risk | Likely pathogenic | Cholestasis, progressive familial intrahepatic, 7 |
| RS2149341072 | Health Risk | Likely pathogenic | Cholestasis, progressive familial intrahepatic, 7 |
| RS2530194325 | Health Risk | Likely pathogenic | Cholestasis, progressive familial intrahepatic, 7 |
| RS2530264975 | Health Risk | Likely pathogenic | Cholestasis, progressive familial intrahepatic, 7 |
| RS2530512454 | Health Risk | Likely pathogenic | — |
| RS2530512499 | Health Risk | Likely pathogenic | Cholestasis, progressive familial intrahepatic, 7 |
| RS2530515702 | Health Risk | Likely pathogenic | Cholestasis, progressive familial intrahepatic, 7 |
| RS2530650387 | Health Risk | Likely pathogenic | USP53-related disorder, USP53-related disorder |
| RS749211191 | Health Risk | Likely pathogenic | Cholestasis, progressive familial intrahepatic, 7 |
| RS767460503 | Health Risk | Likely pathogenic | Cholestasis, progressive familial intrahepatic, 7 |
| RS770909166 | Health Risk | Likely pathogenic | Cholestasis, progressive familial intrahepatic, 7 |
| RS1229833293 | Health Risk | Pathogenic | — |
| RS1263067327 | Health Risk | Pathogenic | Cholestasis, progressive familial intrahepatic, 7 |
| RS1431655079 | Health Risk | Pathogenic | — |
| RS1452792080 | Health Risk | Pathogenic | Cholestasis, progressive familial intrahepatic, 7 |
| RS1465690691 | Health Risk | Pathogenic | — |
| RS1561279060 | Health Risk | Pathogenic | Cholestasis, progressive familial intrahepatic, 7 |
| RS1578491039 | Health Risk | Pathogenic | Cholestasis, Cholestasis |
| RS1578499691 | Health Risk | Pathogenic | Cholestasis, progressive familial intrahepatic, 7 |
| RS1578504946 | Health Risk | Pathogenic | Cholestasis, Cholestasis |
| RS1748093286 | Health Risk | Pathogenic | Cholestasis, progressive familial intrahepatic, 7 |
| RS2149374086 | Health Risk | Pathogenic | Cholestasis, progressive familial intrahepatic, 7 |
| RS2149389813 | Health Risk | Pathogenic | Cholestasis, progressive familial intrahepatic, 7 |
| RS376368459 | Health Risk | Pathogenic | Cholestasis, progressive familial intrahepatic, 7 |
| RS751511532 | Health Risk | Pathogenic | Cholestasis, progressive familial intrahepatic, (PFIC4-like) |
| RS762702807 | Health Risk | Pathogenic | Cholestasis, progressive familial intrahepatic, 7 |
| RS769939924 | Health Risk | Pathogenic | — |
| RS1265790137 | Health Risk | Pathogenic/Likely pathogenic | See cases, Cholestasis, progressive familial intrahepatic |
| RS199791850 | Health Risk | Pathogenic/Likely pathogenic | Cholestasis, progressive familial intrahepatic, 7 |