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 whi... See more...

Aliases for USP20 Gene

Aliases for USP20 Gene

  • Ubiquitin Specific Peptidase 20 2 3 5
  • Ubiquitin-Specific-Processing Protease 20 3 4
  • Ubiquitin Carboxyl-Terminal Hydrolase 20 3 4
  • Deubiquitinating Enzyme 20 3 4
  • Ubiquitin Thioesterase 20 3 4
  • KIAA1003 2 4
  • LSFR3A 3 4
  • HVDU2 3 4
  • VDU2 3 4
  • PVHL-Interacting Deubiquitinating Enzyme 2 3
  • VHL-Interacting Deubiquitinating Enzyme 2 4
  • Ubiquitin Specific Protease 20 2
  • Ubiquitin Thiolesterase 20 3
  • EC 3.4.19.12 4
  • USP20 5

External Ids for USP20 Gene

Previous GeneCards Identifiers for USP20 Gene

  • GC09P123726
  • GC09P124244
  • GC09P126051
  • GC09P127973
  • GC09P129677
  • GC09P131637
  • GC09P132596
  • GC09P102196

Summaries for USP20 Gene

Entrez Gene Summary for USP20 Gene

  • 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]

GeneCards Summary for USP20 Gene

USP20 (Ubiquitin Specific Peptidase 20) is a Protein Coding gene. Among its related pathways are Deubiquitination and Ubiquitin-Proteasome Dependent Proteolysis. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase activity and thiol-dependent ubiquitinyl hydrolase activity. An important paralog of this gene is USP33.

UniProtKB/Swiss-Prot Summary for USP20 Gene

  • Deubiquitinating enzyme involved in beta-2 adrenergic receptor (ADRB2) recycling. Acts as a regulator of G-protein coupled receptor (GPCR) signaling by mediating the deubiquitination beta-2 adrenergic receptor (ADRB2). Plays a central role in ADRB2 recycling and resensitization after prolonged agonist stimulation by constitutively binding ADRB2, mediating deubiquitination of ADRB2 and inhibiting lysosomal trafficking of ADRB2. Upon dissociation, it is probably transferred to the translocated beta-arrestins, possibly leading to beta-arrestins deubiquitination and disengagement from ADRB2. This suggests the existence of a dynamic exchange between the ADRB2 and beta-arrestins. Deubiquitinates DIO2, thereby regulating thyroid hormone regulation. Deubiquitinates HIF1A, leading to stabilize HIF1A and enhance HIF1A-mediated activity. Mediates deubiquitination of both 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains.

Gene Wiki entry for USP20 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for USP20 Gene

Genomics for USP20 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for USP20 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around USP20 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for USP20

Top Transcription factor binding sites by QIAGEN in the USP20 gene promoter:
  • AP-2gamma
  • CUTL1
  • Lmo2
  • p53
  • Roaz

Genomic Locations for USP20 Gene

Latest Assembly
chr9:129,834,698-129,881,836
(GRCh38/hg38)
Size:
47,139 bases
Orientation:
Plus strand

Previous Assembly
chr9:132,597,737-132,644,107
(GRCh37/hg19 by Entrez Gene)
Size:
46,371 bases
Orientation:
Plus strand

chr9:132,596,977-132,644,107
(GRCh37/hg19 by Ensembl)
Size:
47,131 bases
Orientation:
Plus strand

Genomic View for USP20 Gene

Genes around USP20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USP20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USP20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP20 Gene

Proteins for USP20 Gene

  • Protein details for USP20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2K6-UBP20_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase 20
    Protein Accession:
    Q9Y2K6
    Secondary Accessions:
    • Q541F1
    • Q8IXQ1
    • Q96LG5
    • Q9UQN8
    • Q9UQP0

    Protein attributes for USP20 Gene

    Size:
    914 amino acids
    Molecular mass:
    102003 Da
    Quaternary structure:
    • Interacts with VHL, leading to its ubiquitination and subsequent degradation. Interacts with CCP110, DIO2 and HIF1A.
    SequenceCaution:
    • Sequence=BAA76847.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for USP20 Gene

neXtProt entry for USP20 Gene

Post-translational modifications for USP20 Gene

  • Ubiquitinated via a VHL-dependent pathway for proteasomal degradation.
  • Ubiquitination at Lys906
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for USP20 Gene

Domains & Families for USP20 Gene

Gene Families for USP20 Gene

Protein Domains for USP20 Gene

InterPro:
Blocks:
  • Ubiquitin thiolesterase, family 2
  • Zn-finger in ubiquitin thiolesterase
  • Ubiquitin-specific protease DUSP

Suggested Antigen Peptide Sequences for USP20 Gene

GenScript: Design optimal peptide antigens:
  • LSFR3A protein (Q9UQN9_HUMAN)
  • VHL-interacting deubiquitinating enzyme 2 (UBP20_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y2K6

UniProtKB/Swiss-Prot:

UBP20_HUMAN :
  • The UBP-type zinc finger binds 3 zinc ions. However, it does not bind ubiquitin, probably because the conserved Arg in position 55 is replaced by a Glu residue (By similarity).
  • Belongs to the peptidase C19 family. USP20/USP33 subfamily.
Domain:
  • The UBP-type zinc finger binds 3 zinc ions. However, it does not bind ubiquitin, probably because the conserved Arg in position 55 is replaced by a Glu residue (By similarity).
Family:
  • Belongs to the peptidase C19 family. USP20/USP33 subfamily.
genes like me logo Genes that share domains with USP20: view

Function for USP20 Gene

Molecular function for USP20 Gene

UniProtKB/Swiss-Prot Function:
Deubiquitinating enzyme involved in beta-2 adrenergic receptor (ADRB2) recycling. Acts as a regulator of G-protein coupled receptor (GPCR) signaling by mediating the deubiquitination beta-2 adrenergic receptor (ADRB2). Plays a central role in ADRB2 recycling and resensitization after prolonged agonist stimulation by constitutively binding ADRB2, mediating deubiquitination of ADRB2 and inhibiting lysosomal trafficking of ADRB2. Upon dissociation, it is probably transferred to the translocated beta-arrestins, possibly leading to beta-arrestins deubiquitination and disengagement from ADRB2. This suggests the existence of a dynamic exchange between the ADRB2 and beta-arrestins. Deubiquitinates DIO2, thereby regulating thyroid hormone regulation. Deubiquitinates HIF1A, leading to stabilize HIF1A and enhance HIF1A-mediated activity. Mediates deubiquitination of both 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).; EC=3.4.19.12;.

Enzyme Numbers (IUBMB) for USP20 Gene

Phenotypes From GWAS Catalog for USP20 Gene

Gene Ontology (GO) - Molecular Function for USP20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G protein-coupled receptor binding IPI 19424180
GO:0004197 cysteine-type endopeptidase activity IMP 19424180
GO:0004843 thiol-dependent ubiquitin-specific protease activity IDA 19424180
GO:0005515 protein binding IPI 19615732
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with USP20: view
genes like me logo Genes that share phenotypes with USP20: view

Animal Models for USP20 Gene

MGI Knock Outs for USP20:
  • Usp20 Usp20<tm1a(EUCOMM)Hmgu>

Animal Models for research

  • Taconic Biosciences Mouse Models for USP20

miRNA for USP20 Gene

miRTarBase miRNAs that target USP20

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USP20

Clone products for research

  • Addgene plasmids for USP20

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for USP20 Gene

Localization for USP20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for USP20 Gene

Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=According to PubMed:12865408, it localizes in the endoplasmic reticulum. however the relevance of such result is unclear.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for USP20 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
plasma membrane 3
lysosome 2
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for USP20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005813 centrosome IDA 23486064
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with USP20: view

Pathways & Interactions for USP20 Gene

PathCards logo

SuperPathways for USP20 Gene

genes like me logo Genes that share pathways with USP20: view

Pathways by source for USP20 Gene

1 Qiagen pathway for USP20 Gene
  • Ubiquitin-Proteasome Dependent Proteolysis

Gene Ontology (GO) - Biological Process for USP20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0006897 endocytosis IEA --
GO:0008277 regulation of G protein-coupled receptor signaling pathway IMP 19424180
GO:0016579 protein deubiquitination TAS --
genes like me logo Genes that share ontologies with USP20: view

No data available for SIGNOR curated interactions for USP20 Gene

Drugs & Compounds for USP20 Gene

(2) Drugs for USP20 Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
PR-619 Pharma Deubiquitylating enzymes (DBUs) inhibitor 0

(1) ApexBio Compounds for USP20 Gene

Compound Action Cas Number
PR-619 Deubiquitylating enzymes (DBUs) inhibitor 2645-32-1
genes like me logo Genes that share compounds with USP20: view

Drug products for research

Transcripts for USP20 Gene

mRNA/cDNA for USP20 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USP20

Clone products for research

  • Addgene plasmids for USP20

Alternative Splicing Database (ASD) splice patterns (SP) for USP20 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^
SP1: - - -
SP2: - - -
SP3: - - -
SP4:
SP5: - -
SP6:
SP7:
SP8:
SP9:

ExUns: 20a · 20b ^ 21 ^ 22 ^ 23a · 23b · 23c ^ 24a · 24b ^ 25a · 25b · 25c · 25d · 25e
SP1: - - -
SP2: - -
SP3:
SP4: - -
SP5:
SP6: -
SP7: - -
SP8:
SP9:

Relevant External Links for USP20 Gene

GeneLoc Exon Structure for
USP20

Expression for USP20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for USP20 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for USP20 Gene

This gene is overexpressed in Retina (39.2), Placenta (12.2), and Frontal cortex (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for USP20 Gene



Protein tissue co-expression partners for USP20 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for USP20

SOURCE GeneReport for Unigene cluster for USP20 Gene:

Hs.5452

Evidence on tissue expression from TISSUES for USP20 Gene

  • Nervous system(4.5)
  • Liver(4.3)
  • Kidney(2)
genes like me logo Genes that share expression patterns with USP20: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for USP20 Gene

Orthologs for USP20 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for USP20 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia USP20 29 30
  • 99.31 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia USP20 30
  • 90 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia USP20 29 30
  • 89.5 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia USP20 29 30
  • 88.77 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Usp20 29
  • 87.64 (n)
Mouse
(Mus musculus)
Mammalia Usp20 29 16 30
  • 87.49 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 82 (a)
OneToMany
-- 30
  • 78 (a)
OneToMany
Chicken
(Gallus gallus)
Aves USP20 29 30
  • 78.51 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia USP20 30
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia usp20 29
  • 74.49 (n)
Zebrafish
(Danio rerio)
Actinopterygii usp20 29 30
  • 70.28 (n)
OneToOne
zgc63661 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG8494 29 30 31
  • 54.9 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003821 29
  • 53.83 (n)
Worm
(Caenorhabditis elegans)
Secernentea usp-33 30
  • 21 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBP10 30 32 32 32
  • 15 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 43 (a)
OneToMany
Species where no ortholog for USP20 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for USP20 Gene

ENSEMBL:
Gene Tree for USP20 (if available)
TreeFam:
Gene Tree for USP20 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for USP20: view image
Alliance of Genome Resources:
Additional Orthologs for USP20

Paralogs for USP20 Gene

(2) SIMAP similar genes for USP20 Gene using alignment to 1 proteins:

  • UBP20_HUMAN
genes like me logo Genes that share paralogs with USP20: view

Variants for USP20 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for USP20 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs182928178 Benign: not provided 129,863,223(+) C/T
NM_001110303.4(USP20):c.535C>T (p.Leu179=)
SYNONYMOUS
rs200928022 Benign: not provided 129,868,400(+) G/A
NM_001110303.4(USP20):c.1086G>A (p.Ala362=)
SYNONYMOUS
rs36086252 Benign: not provided 129,858,576(+) C/Ap.Ser103Tyr
NM_001110303.4(USP20):c.308C>A (p.Ser103Tyr)
MISSENSE
rs377337518 Benign: not provided 129,868,415(+) G/A
NM_001110303.4(USP20):c.1101G>A (p.Pro367=)
SYNONYMOUS
rs61760212 Benign: not provided 129,868,178(+) G/A
NM_001110303.4(USP20):c.864G>A (p.Ser288=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for USP20 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for USP20 Gene

Variant ID Type Subtype PubMed ID
dgv1511e214 CNV gain 21293372
esv1000693 CNV insertion 20482838
esv1323037 CNV insertion 17803354
esv24598 CNV loss 19812545
esv2759716 CNV gain 17122850
esv3621839 CNV loss 21293372
nsv1036351 CNV gain 25217958
nsv1046477 CNV gain 25217958
nsv1161909 CNV duplication 26073780
nsv469902 CNV loss 18288195
nsv517374 CNV loss 19592680
nsv8571 CNV gain 18304495

Variation tolerance for USP20 Gene

Residual Variation Intolerance Score: 65.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.73; 57.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for USP20 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP20
Leiden Open Variation Database (LOVD)
USP20

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USP20 Gene

Disorders for USP20 Gene

Additional Disease Information for USP20

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for USP20 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for USP20 Gene

Publications for USP20 Gene

  1. VHL protein-interacting deubiquitinating enzyme 2 deubiquitinates and stabilizes HIF-1alpha. (PMID: 15776016) Li Z … Wu G (EMBO reports 2005) 3 4 22
  2. USP33 regulates centrosome biogenesis via deubiquitination of the centriolar protein CP110. (PMID: 23486064) Li J … Dynlacht BD (Nature 2013) 3 4
  3. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 40
  4. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 40
  5. The deubiquitinases USP33 and USP20 coordinate beta2 adrenergic receptor recycling and resensitization. (PMID: 19424180) Berthouze M … Shenoy SK (The EMBO journal 2009) 3 4

Products for USP20 Gene

Sources for USP20 Gene