USP53 - ubiquitin specific peptidase 53 Gene

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

USP53 Protein Structure

UCH

0
200
400
600
800
1000
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		/	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

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