2. Gene
  3. USP53 - ubiquitin specific peptidase 53 Gene

USP53 - ubiquitin specific peptidase 53 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PFIC7

Gene ID: 54532 | Gene type: protein coding

About USP53

Cytogenetic location: 4q26 Genomic coordinates (GRCh38): 4:119,212,601-119,295,518 (from NCBI)

This gene has 11 transcripts (splice variants), 280 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in fat (RPKM 25.2), colon (RPKM 12.3) and 24 other tissues.

Summary

Predicted to enable thiol-dependent Deubiquitinase. Predicted to be involved in response to auditory stimulus and sensory perception of sound. Predicted to act upstream of or within action potential and neuron apoptotic process. Predicted to be located in bicellular tight junction. Predicted to be active in cell-cell junction. [provided by Alliance of Genome Resources, Apr 2022]

USP53 Products(16)

mRNA Protein Name
NM_001371395.1 NP_001358324.1 inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 1
NM_001371396.1 NP_001358325.1 inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 2
NM_001371397.1 NP_001358326.1 inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 3
NM_001371398.1 NP_001358327.1 inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 3
NM_001371399.1 NP_001358328.1 inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 1
NM_001389658.1 NP_001376587.1 inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 1
NM_001389659.1 NP_001376588.1 inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 1
NM_001389660.1 NP_001376589.1 inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 4
NM_001389661.1 NP_001376590.1 inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 2
NM_001389662.1 NP_001376591.1 inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 5
NM_001389663.1 NP_001376592.1 inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 5
NM_001389664.1 NP_001376593.1 inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 5
NM_001389665.1 NP_001376594.1 inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 6
NM_001389666.1 NP_001376595.1 inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 7
NM_001389667.1 NP_001376596.1 inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 8
NM_019050.3 NP_061923.2 inactive ubiquitin carboxyl-terminal hydrolase 53 isoform 1
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
NOT enables cysteine-type deubiquitinase activity IDA
IDA: Inferred from direct assay
14715245 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
26871637 GOA
Cellular Component GO Annotation Evidence Reference Source
located in bicellular tight junction IMP
IMP: Inferred from mutant phenotype
32124521 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

USP53 Protein Structure

UCH

UCH: Ubiquitin carboxyl-terminal hydrolase (39 - 348)

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  • 1073 a.a.
Protein Preferred Names Protein Names

inactive ubiquitin carboxyl-terminal hydrolase 53

inactive ubiquitin-specific peptidase 53

Related Diseases

Diseases Alias
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss

PFIC7
Cholestasis

Obstruction Of Bile Duct

Bile Duct Obstruction

Bile Occlusion

Extrahepatic Biliary Obstruction

Extrahepatic Bile Duct Obstruction

Bile Stasis

Biliary Stasis

Obstructive Hyperbilirubinemia

Obstructed Jaundice

Bile Duct Obstructed

Bile Ductal Obstruction

Biliary Duct Obstruction

Obstructed Bile Ductal

Obstructed Biliary Duct

Obstructed Biliary Ductal

Jaundice Regurgitation

Obstructive Jaundice

Cholestatic Jaundice

Cholestatic Jaundice Syndrome
Progressive Familial Intrahepatic Cholestasis

Abcb4-Related Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic

Pfic

Byler Disease

Abcb11-Related Intrahepatic Cholestasis

Atp8b1-Related Intrahepatic Cholestasis

Bsep Deficiency

Byler Disease

Byler Syndrome

Fic1 Deficiency

Low Γ-Gt Familial Intrahepatic Cholestasis

Mdr3 Deficiency

Pfic

Cholestasis, Intrahepatic, Familial, Progressive

Pfic - [Progressive Familial Intrahepatic Cholestasis]
Cantu Syndrome

Hypertrichotic Osteochondrodysplasia

Hypertrichotic Osteochondrodysplasia Cantu Type

Cantú Syndrome

Craniofaciocardioskeletal Syndrome

Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome

Congenital Hypertrichosis-Acromegaloid Facial Features Spectrum

Congenital Hypertrichosis-Coarse Facial Features Spectrum

HTOCD

Osteochondrodysplasia, Hypertrichotic
Cholestasis, Progressive Familial Intrahepatic, 4

PFIC4

Progressive Familial Intrahepatic Cholestasis 4

Cholestasis, Progressive Familial Intrahepatic 4

Tjp2 Deficit

Progressive Familial Intrahepatic Cholestasis-4

3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency

Progressive Familial Intrahepatic Cholestasis Type 4

Cholestasis, Intrahepatic, Familial, Progressive, Type 4

Bile Acid Synthesis Defect, Congenital, 1
Cholestasis, Progressive Familial Intrahepatic, 5

PFIC5

Progressive Familial Intrahepatic Cholestasis 5

Nr1h4 Deficiency

Progressive Familial Intrahepatic Cholestasis Type 5

Cholestasis, Intrahepatic, Familial, Progressive, Type 5
Liver Disease

Liver Failure

Liver Diseases

Abnormality Of The Liver

Liver Dysfunction

Disorder Of Liver

Hepatic Disorder

Hepatic Disease

Disease Of Bilirubin Metabolism

Disorder Of Bilirubin Metabolism

Liver Decompensation

Liver Function Failure

Hepatic Failure Nos

Liver Failure Nos

End Stage Liver Disease

Decompensated Liver Failure

Decompensation Of Liver Function

Hepatic Decompensation

Hepatic Insufficiency

Liver Cell Necrosis With Hepatic Failure

Liver Insufficiency

Decompensated Liver Disease

End Stage Liver Failure

Liver Necrosis With Hepatic Failure
Subclavian Artery Aneurysm

Aneurysm Of Subclavian Artery
Cholestasis, Progressive Familial Intrahepatic, 1

PFIC1

Byler Disease

Cholestasis, Progressive Familial Intrahepatic 1

Progressive Familial Intrahepatic Cholestasis 1

Progressive Familial Intrahepatic Cholestasis Type 1

Fic1 Deficiency

Byler'S Disease

Cholestasis, Fatal Intrahepatic

Progressive Familial Intrahepatic Cholestasis

Severe Atp8b1 Deficiency

Fatal Intrahepatic Cholestasis

Cholestasis, Intrahepatic, Familial, Progressive, Type 1

Progressive Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic 3
Cholestasis, Progressive Familial Intrahepatic, 3

PFIC3

Cholestasis, Progressive Familial Intrahepatic 3

Mdr3 Deficiency

Progressive Familial Intrahepatic Cholestasis Type 3

Progressive Familial Intrahepatic Cholestasis 3

Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gamma-Glutamyltransferase

Cholestasis, Progressive Familial Intrahepatic, With Elevated Serum Gamma-Glutamyltransferase

Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gama-Glutamyltransferase

Cholestasis, Intrahepatic, Familial, Progressive, Type 3
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS15564 USP53 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus USP53 RGD RGD:1306615
Bos taurus USP53 VGNC VGNC:58425
Felis catus USP53 VGNC VGNC:66895
Macaca mulatta USP53 VGNC VGNC:79793
Canis familiaris USP53 VGNC VGNC:48202
Mus musculus USP53 MGD MGI:2139607
Others USP53 NCBI