USP20 - ubiquitin specific peptidase 20 Gene

Homo sapiens

Also known as VDU2; hVDU2; LSFR3A

Gene ID: 10868 | Gene type: protein coding

About USP20

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:129,835,458-129,881,828 (from NCBI)

This gene has 9 transcripts (splice variants), 207 orthologues and 71 paralogues. Ubiquitous expression in lymph node (RPKM 8.9), bone marrow (RPKM 8.3) and 25 other tissues.

Summary

This gene encodes a ubiquitin specific processing Protease that was first identified as a substrate of the VHL (von Hippel-Lindau disease) protein E3 ubiquitin Ligase complex. In addition to being ubiquitinated by the VHL-E3 Ligase complex, this Enzyme deubiquitinates hypoxia-inducible factor (HIF)-1 alpha and thereby causes increased expression of HIF-1alpha targeted genes which play a role in angiogenesis, glucose metabolism, cell proliferation and metastasis. The Enzyme encoded by this gene also regulates G-protein coupled receptor signaling by mediating the deubiquitination of beta-2 Adrenergic Receptor (ADRB2). This Enzyme is a ubiquitously expressed thiolester hydrolase. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jan 2013]

USP20 Products(3)

mRNA	Protein	Name
NM_001008563.5	NP_001008563.2	ubiquitin carboxyl-terminal hydrolase 20
NM_001110303.4	NP_001103773.2	ubiquitin carboxyl-terminal hydrolase 20
NM_006676.8	NP_006667.3	ubiquitin carboxyl-terminal hydrolase 20

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables G protein-coupled receptor binding	IPI IPI: Inferred from physical interaction	19424180	GOA
enables cysteine-type deubiquitinase activity	IDA IDA: Inferred from direct assay	19424180	GOA
enables cysteine-type endopeptidase activity	IMP IMP: Inferred from mutant phenotype	19424180	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19615732	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in antiviral innate immune response	IDA IDA: Inferred from direct assay	27801882	GOA
involved in negative regulation of canonical NF-kappaB signal transduction	IDA IDA: Inferred from direct assay	26839314	GOA
involved in positive regulation of autophagy	IDA IDA: Inferred from direct assay	29487085	GOA
involved in protein K48-linked deubiquitination	IDA IDA: Inferred from direct assay	19424180	GOA
involved in protein K63-linked deubiquitination	IDA IDA: Inferred from direct assay	19424180	GOA
involved in protein deubiquitination	IDA IDA: Inferred from direct assay	19424180	GOA
involved in regulation of G protein-coupled receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	19424180	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in centrosome	IDA IDA: Inferred from direct assay	23486064	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

USP20 Protein Structure

zf-UBP

UCH

DUSP

0
200
400
600
800
914 a.a.

Protein Preferred Names

Protein Names

ubiquitin carboxyl-terminal hydrolase 20

deubiquitinating enzyme 20

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, Autosomal Dominant 22

MRD22	Mental Retardation, Autosomal Dominant 22
Autosomal Dominant Non-Syndromic Intellectual Disability 22	Distal Monosomy 1q
Autosomal Dominant Intellectual Developmental Disorder 22	Autosomal Dominant Mental Retardation 22
Distal Deletion 1q	Monosomy 1qter
Telomeric Deletion 1q	Mental Retardation, Autosomal Dominant, Type 22

Torch Syndrome

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-111458	GSK2643943A	Inhibitor	99.12%	Unkown
HY-RS15531	USP20 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	USP20	VGNC	VGNC:48182
Rattus norvegicus	USP20	RGD	RGD:1305621
Felis catus	USP20	VGNC	VGNC:66872
Macaca mulatta	USP20	VGNC	VGNC:78740
Bos taurus	USP20	VGNC	VGNC:36715
Mus musculus	USP20	MGD	MGI:1921520

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