USP53 - ubiquitin specific peptidase 53 Gene

Also Known as PFIC7

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54532

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	References	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	References	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

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

USP53 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	USP53	Q70EK8	SAMD4B	Homo sapiens	Q5PRF9	Y2H Array	32296183
Intra	USP53	Q70EK8	SAMD4B	Homo sapiens	Q5PRF9	Y2H Prey Pooling	32296183
Intra	USP53	Q70EK8	CRK	Homo sapiens	P46108	Y2H Prey Pooling	32296183
Intra	USP53	Q70EK8	CRK	Homo sapiens	P46108	BFG-2H	27107012
Intra	USP53	Q70EK8	CRK	Homo sapiens	P46108	Y2H Array	32296183
Intra	USP53	Q70EK8	CRKL	Homo sapiens	P46109	Y2H Prey Pooling	32296183
Intra	USP53	Q70EK8	CRKL	Homo sapiens	P46109	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15564	USP53 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-184244	CAS-010	Inhibitor	/	Unkown
HY-RS20514	Usp53 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27023	Usp53 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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